LOCUS       NM_001144060            7063 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens NHS like 1 (NHSL1), transcript variant 2, mRNA.
ACCESSION   NM_001144060 XM_001723403 XM_496826 XM_941807
VERSION     NM_001144060.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 7063)
  AUTHORS   He,C., Guo,J., Tian,W. and Wong,C.C.L.
  TITLE     Proteogenomics Integrating Novel Junction Peptide Identification
            Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and
            EEF1B2
  JOURNAL   J Proteome Res 20 (12), 5294-5303 (2021)
   PUBMED   34420305
  REMARK    GeneRIF: Proteogenomics Integrating Novel Junction Peptide
            Identification Strategy Discovers Three Novel Protein Isoforms of
            Human NHSL1 and EEF1B2.
REFERENCE   2  (bases 1 to 7063)
  AUTHORS   Law,A.L., Jalal,S., Pallett,T., Mosis,F., Guni,A., Brayford,S.,
            Yolland,L., Marcotti,S., Levitt,J.A., Poland,S.P., Rowe-Sampson,M.,
            Jandke,A., Kochl,R., Pula,G., Ameer-Beg,S.M., Stramer,B.M. and
            Krause,M.
  TITLE     Nance-Horan Syndrome-like 1 protein negatively regulates
            Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and
            cell migration
  JOURNAL   Nat Commun 12 (1), 5687 (2021)
   PUBMED   34584076
  REMARK    GeneRIF: Nance-Horan Syndrome-like 1 protein negatively regulates
            Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and
            cell migration.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 7063)
  AUTHORS   Brooks,S.P., Ebenezer,N.D., Poopalasundaram,S., Lehmann,O.J.,
            Moore,A.T. and Hardcastle,A.J.
  TITLE     Identification of the gene for Nance-Horan syndrome (NHS)
  JOURNAL   J Med Genet 41 (10), 768-771 (2004)
   PUBMED   15466011
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL591375.8 and AL391669.11.
            
            On Jun 2, 2019 this sequence version replaced NM_001144060.1.
            
            Transcript Variant: This variant (2) represents use of an alternate
            promoter and 5' UTR, uses a distinct start codon, and includes an
            alternate in-frame exon, compared to variant 1. The resulting
            isoform (2) has a shorter and distinct N-terminus and includes an
            alternate segment, compared to isoform 1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853563.29043.1,
                                           SRR14038191.283616.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343505.10/ ENSP00000344672.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-262               AL591375.8         9595-9856           c
            263-415             AL591375.8         6581-6733           c
            416-543             AL391669.11        60084-60211         c
            544-736             AL391669.11        33779-33971         c
            737-868             AL391669.11        28761-28892         c
            869-4156            AL391669.11        17171-20458         c
            4157-4289           AL391669.11        16489-16621         c
            4290-7063           AL391669.11        8821-11594          c
FEATURES             Location/Qualifiers
     source          1..7063
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.1"
     gene            1..7063
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /note="NHS like 1"
                     /db_xref="GeneID:57224"
                     /db_xref="HGNC:HGNC:21021"
                     /db_xref="MIM:620171"
     exon            1..262
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /inference="alignment:Splign:2.1.0"
     CDS             205..5025
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /note="isoform 2 is encoded by transcript variant 2;
                     NHS-like protein 1"
                     /codon_start=1
                     /product="NHS-like protein 1 isoform 2"
                     /protein_id="NP_001137532.1"
                     /db_xref="CCDS:CCDS47487.1"
                     /db_xref="GeneID:57224"
                     /db_xref="HGNC:HGNC:21021"
                     /db_xref="MIM:620171"
                     /translation="MVVFINAKIKSLIKLFKKKTVSNLDEESRWTVHYTAPWHQQENV
                     FLPTTRPPCVEDLHRQAKLNLKSVLRECDKLRHDGYRSSQYYSQGPTFAANASPFCDD
                     YQDEDEETDQKCSLSSSEEERFISIRRPKTPASSDFSDLNTQTNWTKSLPLPTPEEKM
                     RQQAQTVQADVVPINITGENFDRQASLRRSLIYTDTLVRRPKKVKRRKTITGVPDNIQ
                     KELASGTGQDDADGHSVYTPDHYSTLGRFNSCRSAGQRSETRDSSCQTEDVKVVPPSM
                     RRIRAQKGQGIAAQMGHFSGSSGNMSVLSDSAGIVFPSRLDSDAGFHSLPRSGARANI
                     QSLEPRLGALGPAGDMNGTFLYQRGHPQADENLGHLGGASGTGTLLRPKSQELRHFES
                     ENIMSPACVVSPHATYSTSIIPNATLSSSSEVIAIPTAQSAGQRESKSSGSSHARIKS
                     RDHLISRHAVKGDPQSPGRHWNEGHATILSQDLDPHSPGEPALLSLCDSAVPLNAPAN
                     RENGSQAMPYNCRNNLAFPAHPQDVDGKSESSYSGGGGHSSSEPWEYKSSGNGRASPL
                     KPHLATPGYSTPTSNMSSCSLDQTSNKEDAGSLYSEDHDGYCASVHTDSGHGSGNLCN
                     SSDGFGNPRHSVINVFVGRAQKNQGDRSNYQDKSLSRNISLKKAKKPPLPPSRTDSLR
                     RIPKKSSQCNGQVLNESLIATLQHSLQLSLPGKSGSSPSQSPCSDLEEPWLPRSRSQS
                     TVSAGSSMTSATTPNVYSLCGATPSQSDTSSVKSEYTDPWGYYIDYTGMQEDPGNPAG
                     GCSTSSGVPTGNGPVRHVQEGSRATMPQVPGGSVKPKIMSPEKSHRVISPSSGYSSQS
                     NTPTALTPVPVFLKSVSPANGKGKPKPKVPERKSSLISSVSISSSSTSLSSSTSTEGS
                     GTMKKLDPAVGSPPAPPPPPVPSPPFPCPADRSPFLPPPPPVTDCSQGSPLPHSPVFP
                     PPPPEALIPFCSPPDWCLSPPRPALSPILPDSPVSLPLPPPLLPSSEPPPAPPLDPKF
                     MKDTRPPFTNSGQPESSRGSLRPPSTKEETSRPPMPLITTEALQMVQLRPVRKNSGAE
                     AAQLSERTAQEQRTPVAPQYHLKPSAFLKSRNSTNEMESESQPASVTSSLPTPAKSSS
                     QGDHGSAAERGGPVSRSPGAPSAGEAEARPSPSTTPLPDSSPSRKPPPISKKPKLFLV
                     VPPPQKDFAVEPAENVSEALRAVPSPTTGEEGSVHSREAKESSAAQAGSHATHPGTSV
                     LEGGAAGSMSPSRVEANVPMVQPDVSPAPKQEEPAENSADTGGDGESCLSQQDGAAGV
                     PETNAAGSSSEACDFLKEDGNDEVMTPSRPRTTEDLFAAIHRSKRKVLGRRDSDDDHS
                     RNHSPSPPVTPTGAAPSLASPKQVGSIQRSIRKSSTSSDNFKALLLKKGSRSDTSARM
                     SAAEMLKNTDPRFQRSRSEPSPDAPESPSSCSPSKNRRAQEEWAKNEGLMPRSLSFSG
                     PRYGRSRTPPSAASSRYSMRNRIQSSPMTVISEGEGEAVEPVDSIARGALGAAEGCSL
                     DGLAREEMDEGGLLCGEGPAASLQPQAPGPVDGTASAEGREPSPQCGGSLSEES"
     exon            263..415
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /inference="alignment:Splign:2.1.0"
     exon            416..543
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /inference="alignment:Splign:2.1.0"
     exon            544..736
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /inference="alignment:Splign:2.1.0"
     exon            737..868
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /inference="alignment:Splign:2.1.0"
     exon            869..4156
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /inference="alignment:Splign:2.1.0"
     exon            4157..4289
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /inference="alignment:Splign:2.1.0"
     exon            4290..7063
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5914..5919
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /note="hexamer: AATAAA"
     polyA_site      5957
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
     polyA_site      6555
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
     regulatory      7042..7047
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /note="hexamer: AATAAA"
     polyA_site      7063
                     /gene="NHSL1"
                     /gene_synonym="C6orf63"
                     /note="major polyA site"
ORIGIN      
        1 aggttcaagg actgttaatg gtttgtaact gcctgacaat aaactcaacc tcagttacat
       61 cagcctgggc agatgtctaa ggatatgaga ccgggggaag aaaaagttag aatctgtagc
      121 agaaggacga agcttgccac ctgcctactg ggctgagctt ttaatgtgat ttacatttct
      181 aagctctatg taggtgccct ggaaatggtg gtcttcatta atgcaaagat taagtcttta
      241 attaaacttt ttaagaagaa aacggtttcc aacctagatg aggaaagccg atggacagtc
      301 cactacactg ccccgtggca ccagcaggag aatgtgttcc ttcccaccac aagacccccc
      361 tgtgttgagg acctgcaccg ccaagccaag ctcaacctca aatcagtact gagggaatgc
      421 gataagttgc ggcatgatgg ctaccgcagt tctcagtact actctcaggg acccaccttt
      481 gcggccaacg ccagcccatt ctgtgatgat taccaagatg aagatgaaga aacagatcaa
      541 aagtgttctc tgtcttcatc agaagaagaa agatttattt ccatcaggag acctaaaaca
      601 ccagcctcaa gtgacttctc cgaccttaat actcagacga actggaccaa gtcgcttcca
      661 ctgccaacac cagaagagaa gatgcgacag caagcccaaa cagtccaggc tgacgtggtg
      721 cctattaaca taactgggga gaatttcgat cgccaggcca gccttcggcg gtctctaatt
      781 tacacagaca ctctggtaag acgaccgaag aaagtcaaaa ggagaaagac tattacagga
      841 gtccctgaca acatacagaa ggagctagca tcaggcactg gccaagatga tgctgatggc
      901 cactcagtgt acacccctga tcactactct acactaggaa ggttcaatag ctgtcggtct
      961 gctgggcagc gctcagaaac cagggactcc agctgtcaga cggaggatgt gaaggtcgta
     1021 ccaccttcca tgaggagaat cagggcacag aaggggcaag gcattgctgc ccagatgggc
     1081 cacttctcag gttcctctgg caacatgtct gtgctgagcg attctgcagg gatcgtattc
     1141 ccttcccgcc ttgacagtga tgctggcttc catagtcttc cgcgttctgg agcaagggca
     1201 aacattcagt cccttgagcc gaggctgggt gccctcggcc ctgcaggaga catgaatggc
     1261 actttcctct accagagagg tcacccacaa gcagatgaaa acttaggcca tttaggaggt
     1321 gcctcaggga ctggaacact tttgagaccc aaatcccagg agttgagaca cttcgagagt
     1381 gaaaatataa tgagcccagc gtgtgtggtt tctcctcatg caacctactc caccagcatc
     1441 atcccaaatg ccacactgtc ttcctcttcc gaggtcatcg ctattcccac tgctcagagt
     1501 gcgggacagc gggaaagtaa aagttctggc tcatcacatg caaggataaa atccagagac
     1561 cacctcatct ccaggcatgc tgtgaaaggt gatcctcagt ctcccggtcg ccactggaat
     1621 gagggccatg ccaccattct ttcacaggac ttagaccctc attcccctgg tgaacccgca
     1681 ctgttgtccc tctgtgactc agccgtccct ctaaatgctc cagcaaatag ggagaatggg
     1741 tcccaagcta tgccgtataa ttgtagaaac aacctggcct tcccagccca cccccaagat
     1801 gtggatggca agagtgaatc tagttattca gggggcggag ggcacagcag ctcggagccc
     1861 tgggaataca aatcctcagg taatggaagg gcatcccccc tgaagccgca tttagcaact
     1921 cctggctatt ccactcccac aagtaacatg agcagctgca gtttggacca aacgtccaac
     1981 aaagaggatg ctgggtcgct gtattctgag gaccacgatg gctactgtgc atctgtgcac
     2041 actgactctg gacatggatc tgggaatctg tgcaatagca gtgatggctt tgggaacccc
     2101 aggcacagcg tgatcaatgt ttttgttgga agagctcaga aaaaccaagg ggaccggtcc
     2161 aattaccagg ataaatccct atcaagaaac atctctttga agaaagcaaa gaagcctccc
     2221 ctgccaccct cccggacaga ctccctccgc aggattccca agaagagcag ccagtgcaac
     2281 gggcaggtgc tcaacgagag cctgatcgcc acactccagc actcgctgca gctgagcctc
     2341 ccaggcaaga gtggcagctc gccctcccag agcccctgca gtgacttgga agagccctgg
     2401 ctgccccgct cccggagcca gagcacagtt agtgctggca gcagcatgac ttccgccacc
     2461 acccccaatg tctactccct gtgcggggcc acgccatcgc agagtgacac aagcagcgtc
     2521 aagtcagagt acacggaccc ctggggttat tacattgact acacgggcat gcaggaagat
     2581 ccggggaacc cggcaggggg ctgttcaacc agcagtgggg tgcccactgg gaacgggcca
     2641 gtccgccatg tccaagaagg gtccagagcc acaatgcccc aagtgcccgg tggttcagtc
     2701 aaaccaaaga tcatgtcacc agagaagtca cacagagtca tttctccatc cagtgggtat
     2761 tccagccagt cgaatacacc cacagcactc acccctgtgc ctgtgttttt aaaatcagtg
     2821 tcaccagcaa acgggaaggg gaagcccaag cccaaggtac cagaaaggaa gtcctctctg
     2881 atatcttcag tatccatttc ctcatcgtcc acttctcttt cttctagtac ttctactgaa
     2941 ggaagtggca ctatgaagaa gctggatcca gccgtgggct ctcccccggc tcctcctcct
     3001 cctcctgttc cctctcctcc attcccttgt cctgcagaca ggtctccttt ccttcctccc
     3061 ccacctcctg tcacagattg ctcccagggc tctcctctgc ctcactctcc tgtgttcccc
     3121 cctccgccgc cagaagctct cattcctttc tgctccccac ctgattggtg cctttctcct
     3181 ccccgccctg cactgagccc cattcttcca gattcacctg tgtccttgcc attgccccca
     3241 cctctcttac cttcctcgga acccccacct gccccacctc ttgaccccaa attcatgaaa
     3301 gacaccaggc cgcctttcac aaattctggc cagccagaat cctcccgggg atccttgagg
     3361 ccgccttcta ccaaggagga gaccagcagg ccccccatgc ccctgataac cacggaagca
     3421 ttgcagatgg tgcagttgag gcccgtgaga aagaactcag gcgctgaggc ggcacagttg
     3481 tctgaacgaa cagctcagga acaacgaact ccagttgctc cacagtacca cttaaagcca
     3541 tctgctttcc tgaaatcccg aaatagcaca aatgaaatgg agagtgaaag ccagcctgcc
     3601 tctgtgacaa gctcgcttcc gacgcctgcc aagagctcga gtcagggtga ccatggcagt
     3661 gcggctgagc gtggtggccc tgtgagccgc agccctggag ctccaagcgc tggggaggca
     3721 gaggctcggc ccagccccag caccacccca ctcccagact cttcacccag caggaagcca
     3781 ccccccattt ccaagaagcc caaactgttc ctggtggtac cacctccgca gaaagatttt
     3841 gcagtggagc ccgcagagaa cgtgagcgaa gccctccgag ctgtgcccag ccccacgacg
     3901 ggagaggagg gctctgtgca cagcagggag gcaaaagaga gttctgcagc ccaagctggc
     3961 tctcatgcca cgcaccctgg cacctcggtt cttgagggag gagctgcagg atccatgtct
     4021 cccagcagag tggaagccaa tgtccccatg gttcagcctg atgtctcacc agcccccaag
     4081 caggaggagc cagccgagaa cagtgcggat actgggggcg atggggagag ctgcctatct
     4141 caacaggacg gagcagctgg ggtgccggag accaacgcag ccggttcatc ctcagaggcc
     4201 tgtgacttcc tcaaggaaga cgggaatgat gaggtaatga cccccagtcg acccaggacc
     4261 acagaagacc tttttgcagc tattcacaga tccaaaagga aagtcctcgg ccgtagagat
     4321 tcagatgatg accactcccg aaaccattct ccctccccgc ccgtgacacc caccggcgct
     4381 gccccaagcc tggcctctcc aaagcaagtg gggtcgattc agagaagcat ccgaaagagc
     4441 agcaccagca gtgacaactt caaagctctg ctgctgaaaa agggcagtcg ttcagacacc
     4501 agcgcccgca tgtctgcagc agagatgctc aagaacacag accctagatt ccagaggtcg
     4561 aggtcagagc cttccccaga tgcccccgag agcccgtcaa gctgctcccc aagcaagaac
     4621 agaagggcgc aggaggagtg ggccaagaac gaaggcttga tgcctcggag tctgtccttt
     4681 tccggcccca ggtacggccg cagccgaacg ccgccttctg ccgccagcag caggtacagc
     4741 atgcggaacc ggatccagag cagccccatg accgtcatct cggagggaga aggggaagcc
     4801 gtggagcctg tggacagcat agcccgcggg gctctgggcg ctgcggaggg atgttccctg
     4861 gacggactgg cgagggagga gatggacgag ggcggcctgc tctgtgggga ggggcctgcc
     4921 gcctccctgc agccccaggc ccccggccct gtggatggga cagccagtgc agagggcaga
     4981 gagccctccc cacagtgtgg cggttctctg agcgaggaga gttagggcca agaacgtaac
     5041 tctcccaggt gacacggggg gagacgagca atgcagcact ctaggaagcc tgctaggcgc
     5101 ccttccctgg ctcacccggg gagcccactc tgcttctgtg ctgtgggccc cggggttgcc
     5161 agccctgcag tgtgagtgaa cggttattta ggactcacct ggcacttgcc ctgtggctta
     5221 agaacaagta gaagcttaaa cttctgaaag tgcttcccgg ggaagatttt tttttttttt
     5281 tttttttttt gctaaatgct gggtgtgtat gtgtgcattt tccacacttt ttaattttta
     5341 aaaaatacac atatacacaa acaacatgta cagaaataga agaaagcaag ccagacttaa
     5401 gcttggtaga gtaacggagt cctctggtct aggcggtaat tgctttcaga gaattacgtt
     5461 tatagaaatc agcgagtttt gtaagaaagg agaagatgtt acttcaagaa agaggcagta
     5521 gagttgctgg ttcttaatgc acagaacaca cagatatatg cacacgtgtg ctgctgaggt
     5581 gaggcaggtc tggtgagcac ggagaggctg ggaaggggct aagtgactaa ttggttcagg
     5641 tacttttttc tgggggaggt agactttgct tcttttttgt aaaaatgaca aacgtagaag
     5701 tggcaatgct gtaacctggt gcctgctgct gtgcagccac atacacacaa ttgtagcctg
     5761 atttttagaa gtgtgggtaa ttttttaatg aatttcctcc ttgagtagca gctgaggtca
     5821 ttgacaactg aagtgatggt gtggacatag agagagggga agggttggaa aggagtaagt
     5881 gatacactgc tggaatttgt ttcctgccta tgaaataaaa ttatttttca gaattaaatt
     5941 tgaaaacttg cactacagaa ctatgggtgg agcttttcct tttacaacag tttttttttt
     6001 tttttttttt taaccagagt ttaaacttcc attaggcaat ttcctgtcac ttgaaatgtc
     6061 aacatttgct aacttttgga tatccttttg gttacaccaa agaaaaagtt atggctattt
     6121 ttttttcctt gaactgccta cagtatcatg tcctaattca gaaagattta tcaaaatcta
     6181 ttatatatta tcttactttg aagaaaatgc tgaatagctc ttgttagtca aataaactga
     6241 taaaaattgg tagggcctgg ctatcaatta gccctgggaa atgaattttt agattaaaaa
     6301 ggtttttttg catcatttgg tttgtgcatt tttatatttg tttataaata attgagttgc
     6361 taattacttc taatcttctc caatcagatt ttcaacaatt ttagacatgg gacacacgtg
     6421 tgtgaagtct ttattttaat gtaataatct cattaccccc acccttactc ccttaacttc
     6481 catgtactta gactccttta tttgttaaat aaactagagt attgtcttct tcattagaag
     6541 gacctaggat gacaatgcgg agagtcttgg tctgaatcta gtgcgactac cacctgccag
     6601 cttttggggg gtatggaaat actatctaaa agttggactg catgggtcaa atcattatga
     6661 gacttataaa ctaaaacttt agatacccat atagaaatgt ctttgaggca aaaacaaacc
     6721 taaagaatga aggctctttc ccttctctga aaaaaacaaa acactgctct tcacacaacc
     6781 ggaagtcaag accagagatt tggagcaatt gtctactaat ttggcacaaa gatcgtttct
     6841 ttagaaaagt ggcattggct tttgaatatg aaatcttctc atagctgcct aaaaaagact
     6901 agaatgtata tggatatcag aaacctttaa taatacataa tttatgcaaa gataagataa
     6961 agcaacataa cactaattat aaaactattt ttaaatcccc atttttaatg aaaaatatac
     7021 atttgtattt aatttccttt gaataaaaca attgtaaagt aaa
//
