LOCUS       NM_001029998            3756 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens solute carrier family 10 member 7 (SLC10A7),
            transcript variant 2, mRNA.
ACCESSION   NM_001029998
VERSION     NM_001029998.6
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 3756)
  AUTHORS   Zhang,W., Yao,Z., Guo,R., Cao,J., Li,W., Hao,C. and Zhang,X.
  TITLE     Identification of novel homozygous nonsense SLC10A7 variant causing
            short stature, amelogenesis imperfecta, and skeletal dysplasia with
            scoliosis and surgical management of spine
  JOURNAL   Orphanet J Rare Dis 18 (1), 371 (2023)
   PUBMED   38037133
  REMARK    GeneRIF: Identification of novel homozygous nonsense SLC10A7
            variant causing short stature, amelogenesis imperfecta, and
            skeletal dysplasia with scoliosis and surgical management of spine.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3756)
  AUTHORS   Durin,Z., Dubail,J., Layotte,A., Legrand,D., Cormier-Daire,V. and
            Foulquier,F.
  TITLE     SLC10A7, an orphan member of the SLC10 family involved in
            congenital disorders of glycosylation
  JOURNAL   Hum Genet 141 (7), 1287-1298 (2022)
   PUBMED   34999954
  REMARK    GeneRIF: SLC10A7, an orphan member of the SLC10 family involved in
            congenital disorders of glycosylation.
REFERENCE   3  (bases 1 to 3756)
  AUTHORS   Li,C., Liu,Y., Lv,Z., Zheng,H., Li,Z., Zhang,J., Bao,H., Zhang,S.,
            Xiong,J., Jin,H., Yu,L., Ai,S., Wang,Y., Xiao,X., Su,T. and
            Liang,P.
  TITLE     Circular RNA circHECTD1 facilitates glioma progression by
            regulating the miR-296-3p/SLC10A7 axis
  JOURNAL   J Cell Physiol 236 (8), 5953-5965 (2021)
   PUBMED   33561315
  REMARK    GeneRIF: Circular RNA circHECTD1 facilitates glioma progression by
            regulating the miR-296-3p/SLC10A7 axis.
REFERENCE   4  (bases 1 to 3756)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 3756)
  AUTHORS   Karakus,E., Wannowius,M., Muller,S.F., Leiting,S., Leidolf,R.,
            Noppes,S., Oswald,S., Diener,M. and Geyer,J.
  TITLE     The orphan solute carrier SLC10A7 is a novel negative regulator of
            intracellular calcium signaling
  JOURNAL   Sci Rep 10 (1), 7248 (2020)
   PUBMED   32350310
  REMARK    GeneRIF: The orphan solute carrier SLC10A7 is a novel negative
            regulator of intracellular calcium signaling.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3756)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3756)
  AUTHORS   Godoy,J.R., Fernandes,C., Doring,B., Beuerlein,K., Petzinger,E. and
            Geyer,J.
  TITLE     Molecular and phylogenetic characterization of a novel putative
            membrane transporter (SLC10A7), conserved in vertebrates and
            bacteria
  JOURNAL   Eur J Cell Biol 86 (8), 445-460 (2007)
   PUBMED   17628207
  REMARK    GeneRIF: Molecular characterization and expression analysis of a
            novel member of the SLC10 family, SLC10A7, previously known as
            C4orf13, is reported
REFERENCE   8  (bases 1 to 3756)
  AUTHORS   Zou,X., Wang,D., Qiu,G., Ji,C., Jin,F., Wu,M., Zheng,H., Li,X.,
            Sun,L., Wang,Y., Tang,R., Zhao,R.C. and Mao,Y.
  TITLE     Molecular cloning and characterization of a novel human C4orf13
            gene, tentatively a member of the sodium bile acid cotransporter
            family
  JOURNAL   Biochem Genet 43 (3-4), 165-173 (2005)
   PUBMED   15932064
  REMARK    GeneRIF: cloning and characterization; mapped to chromosome 4q31.2
            and contains 12 exons; widely expressed in human tissues
REFERENCE   9  (bases 1 to 3756)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 3756)
  AUTHORS   Teng,C.S.
  TITLE     Biological activity in the repopulating rat spermatocyte after the
            withdrawal of gossypol treatment. V. Inhibition and recovery of
            microtubular dynein
  JOURNAL   Contraception 51 (5), 313-318 (1995)
   PUBMED   7628207
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC150308.1 and AC093863.3.
            
            On Jun 2, 2019 this sequence version replaced NM_001029998.5.
            
            Transcript Variant: This variant (2) encodes isoform b.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because transcript sequence consistent with
            the reference genome assembly was not available for all regions of
            the RefSeq transcript. The extent of this transcript is supported
            by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC150308.1, SRR14038194.1419126.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335472.12/ ENSP00000334594.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1547              BC150308.1         1-1547
            1548-2792           AC093863.3         2423-3667           c
            2793-3750           BC150308.1         2793-3750
            3751-3756           AC093863.3         1459-1464           c
FEATURES             Location/Qualifiers
     source          1..3756
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q31.22"
     gene            1..3756
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="solute carrier family 10 member 7"
                     /db_xref="GeneID:84068"
                     /db_xref="HGNC:HGNC:23088"
                     /db_xref="MIM:611459"
     exon            1..323
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     CDS             224..1246
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="isoform b is encoded by transcript variant 2;
                     sodium/bile acid cotransporter 7; SBF-domain containing
                     protein; Na(+)/bile acid cotransporter 7; solute carrier
                     family 10 (sodium/bile acid cotransporter family), member
                     7"
                     /codon_start=1
                     /product="sodium/bile acid cotransporter 7 isoform b"
                     /protein_id="NP_001025169.1"
                     /db_xref="CCDS:CCDS34073.1"
                     /db_xref="GeneID:84068"
                     /db_xref="HGNC:HGNC:23088"
                     /db_xref="MIM:611459"
                     /translation="MRLLERMRKDWFMVGIVLAIAGAKLEPSIGVNGGPLKPEITVSY
                     IAVATIFFNSGLSLKTEELTSALVHLKLHLFIQIFTLAFFPATIWLFLQLLSITPINE
                     WLLKGLQTVGCMPPPVSSAVILTKAVGGNEAAAIFNSAFGSFLGIVITPLLLLLFLGS
                     SSSVPFTSIFSQLFMTVVVPLIIGQIVRRYIKDWLERKKPPFGAISSSVLLMIIYTTF
                     CDTFSNPNIDLDKFSLVLILFIIFSIQLSFMLLTFIFSTRNNSGFTPADTVAIIFCST
                     HKSLTLGIPMLKIVFAGHEHLSLISVPLLIYHPAQILLGSVLVPTIKSWMVSRQKGVK
                     LTRPTV"
     exon            324..406
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            407..543
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            544..619
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            620..658
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            659..694
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            695..778
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            779..944
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            945..996
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1070
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1216
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..3756
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2786..2791
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: AATAAA"
     polyA_site      2805
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="major polyA site"
     regulatory      3298..3303
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: AACAAA"
     regulatory      3305..3310
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: AATAAA"
     polyA_site      3317
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="major polyA site"
     polyA_site      3328
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="major polyA site"
     regulatory      3727..3732
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: ATTAAA"
     regulatory      3731..3736
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="hexamer: AACAAA"
     polyA_site      3746
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
     polyA_site      3756
                     /gene="SLC10A7"
                     /gene_synonym="C4orf13; P7; SSASKS"
                     /note="major polyA site"
ORIGIN      
        1 gctcagtgag actttcctgt cactggctac tactactccc aaccctcctc aaagccgccg
       61 gagcaacccc caggtcttta ctttacaatc ggcaatttga cttgctctgc tgcatgtctg
      121 gagggaccaa ggaaagtgtg gagacgctcc aaggattagg tgatcggagc ttgaaaagaa
      181 aaaaagccaa acaaataaac aaaacccacc caccctaaca aatatgaggc tgctggagag
      241 aatgaggaaa gactggttca tggtcggaat agtgctggcg atcgctggag ctaaactgga
      301 gccgtccata ggggtgaatg ggggaccact gaagccagaa ataactgtat cctacattgc
      361 tgttgcaaca atattcttta acagtggact atcattgaaa acagaggagc tgaccagtgc
      421 tttggtgcat ctaaaactgc atctttttat tcagatcttt actcttgcat tcttcccagc
      481 aacaatatgg ctttttcttc agcttttatc aatcacaccc atcaacgaat ggcttttaaa
      541 aggtttgcag acagtaggtt gcatgcctcc gcctgtgtct tctgcagtga ttttaaccaa
      601 ggcagttggt ggaaatgagg cagctgcaat atttaattca gcctttggaa gttttttggg
      661 catcgttata acacccctgc tcctgctgct ttttcttggt tcatcttctt ctgtgccttt
      721 cacatctatt ttttctcagc tttttatgac tgttgtggtt cctctcatca ttggacagat
      781 tgtccgaaga tacatcaagg attggcttga gagaaagaag cctccttttg gtgctatcag
      841 cagcagtgta ctcctcatga tcatctacac aacattctgt gacacgttct ctaacccaaa
      901 tattgacctg gataaattca gccttgttct catactgttc ataatatttt ctatccagct
      961 gagttttatg cttttaactt tcatcttttc aacaaggaat aattcgggtt tcacaccagc
     1021 agacacagtg gctatcattt tctgttctac acacaaatcc cttacattgg gaattccgat
     1081 gctgaagatc gtgtttgcag gccatgagca tctctcttta atatctgtac ccttgctcat
     1141 ctaccaccca gctcagatcc ttctgggaag tgtgttggtg ccaacaatca agtcttggat
     1201 ggtatcaagg cagaagggag tgaagctgac aaggccgaca gtataacaaa ggaggtggac
     1261 tttctgtagc aatgtatata tgtacaggat tgtacatact agcaattctg aagacttgta
     1321 cttgtgaatg ttgcctcaat gcatatttta tttttttaca caaaaatatg agatcctgtt
     1381 taagtgcctt aaaatgtatt tgacaagagc gttatttcca aaatatgctt tgttgattac
     1441 tgccaggggt ggtacaatat ttgggggtta attttgcttt cctaatgcag gaatcagtca
     1501 tggtaagtga caaaaagcaa acatgctttc cctgcagcac ctttgtgcaa tacaacccta
     1561 tagtagttac tgtaatgttt gaaatgaggt cacaccatca ggaaaatgcc cttctgatga
     1621 cagtgaaaat ttccaaagtc ttattcatgc atactttgat ttactgtgtg attctttttt
     1681 tctacgactg tgacatgcct cttccttatc aactcagcag gggtcataga tcgaatagat
     1741 gctgaaaagc gtaagatata tgcattcctt gacatcattt ttaaagacat tccttcaaat
     1801 agtttccaca cagaaattcc tcactcccat tatgagagat tgtggttata tgtcttaaat
     1861 ttattataag ctgcttcaaa gaaagggtct gaatgtttga attatgagtg aaatcatgtg
     1921 aaattttgag ttaaactctg tgatttgatt ttcagggtct ttaaaatata tcttaatatc
     1981 ttcttcctct ttattcaata atttctgtct tgcacttaca cactcataac agccaaatat
     2041 gaggcacaaa aatgttacaa tcagtttgaa agcagcatca attaatggta gattctattc
     2101 acattccaca acccagacca aatttttttc ctattacgca gatgtgctga gcactttcca
     2161 gattgcccct gttggccaaa agcagcctgt tacatcctgg aattaagcac acttaaggta
     2221 tttgagacaa tttattaatg aaaatttcct tggcagattt gacaaatgtt ggcaatattt
     2281 ttttagaagt taaatcatat tgctttcatg aataaatgaa aatataaagg tcatggatgc
     2341 aaacaaatgt tacatataca cattctgtct ctccagatga aaagaacatg caaaaccatt
     2401 taataaccaa aatatcaagt aaaattagtt cccaacgggg cagcagcttt caaatgagtg
     2461 tccaatattt gcttctgcta tagctgcaag aactgtaact ggacccaagt agagaatgaa
     2521 gccacgtata gaactacgag aacacttttc tgtgtttccc ccatgccgtc ctgtcacatc
     2581 ctcttacacg tcctctcttg atttgataga caatattggc atcctgggtc tcactgaggc
     2641 cgtgctatgt cctcagcagc tgtttttgtt gtttcgttat tatgcccaca acaaaaaatc
     2701 attccttaga aactcaccaa gtttatctac tgtgtaaatt tatattattg ttactaccag
     2761 gtctcatctt ttgtcaatgt cattgaataa atttcataag agttattctc agtgtgaatt
     2821 ttaaggctaa tgccagatcc tgcaaaaatc tatgctaacc aggctgtagt acacactgtt
     2881 ataaagaatt ttacttgtgt ctaaaactac agtaattttg cttaggtaat tgtgcttacc
     2941 tatggagcac aggaaggctc ttaggttttg ttcctacaag tttctttgaa ttttggagta
     3001 aatggaagtg tctgtctgtc tgtcatctat ctgccctatc ataaaaatct ttctccctaa
     3061 cattaaaata ctgatccccg cccccaactt atctacctct attgtctaac acctatagta
     3121 ggtgtgatca tgggataaaa ttcaactgaa aatgctatga taacatttta tcgtttgctt
     3181 taaaaatgtg ctttgttttc aaataatctt tacatagtga actttggtgg cgttagtgat
     3241 atgtttatgc ctatttcttt tttttacaca aattccttgg catatttttt cataaagaac
     3301 aaaaaataaa atcaaaattt atttttaatt catgcttatt gggatttaat tattcagagc
     3361 ttaaaatatt ttgttatgtt tatacactgt aaagctatct gttttatgca tttgttttgt
     3421 ctaaatgtat ttatgaaaga aatacattag attatattta tgtttactca tttttccacc
     3481 tggatttttt ttaatggttg ttacaaaatt agatttttta atgggtaata atgttggtat
     3541 tttcatgttt tttcttagta ttaaaatttt tgtgggtttt ttaaaatttt tccctattct
     3601 gttaaaaatt aacacacctc tagctaatgt tcagtgtttg tgctaaatac caaatttttt
     3661 caaaaggatt ggttaagtca taaagtggat tatttatgat gactggaaga tgaaaataat
     3721 tatatgatta aacaaagaat gtttcagaaa tcacaa
//
