LOCUS       NP_001230937            1791 aa            linear   PRI 07-DEC-2024
DEFINITION  kinesin-like protein KIF1A isoform 1 [Homo sapiens].
ACCESSION   NP_001230937
VERSION     NP_001230937.1
DBSOURCE    REFSEQ: accession NM_001244008.2
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  (residues 1 to 1791)
  AUTHORS   Zhou,Q., Yang,M., Fu,J., Sun,X., Wang,J., Zhang,H., Hu,J. and
            Han,B.
  TITLE     KIF1A promotes neuroendocrine differentiation in prostate cancer by
            regulating the OGT-mediated O-GlcNAcylation
  JOURNAL   Cell Death Dis 15 (11), 796 (2024)
   PUBMED   39505875
  REMARK    GeneRIF: KIF1A promotes neuroendocrine differentiation in prostate
            cancer by regulating the OGT-mediated O-GlcNAcylation.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1791)
  AUTHORS   Sudnawa,K.K., Li,W., Calamia,S., Kanner,C.H., Bain,J.M.,
            Abdelhakim,A.H., Geltzeiler,A., Mebane,C.M., Provenzano,F.A.,
            Sands,T.T., Fee,R.J., Montes,J., Shen,Y. and Chung,W.K.
  TITLE     Heterogeneity of comprehensive clinical phenotype and longitudinal
            adaptive function and correlation with computational predictions of
            severity of missense genotypes in KIF1A-associated neurological
            disorder
  JOURNAL   Genet Med 26 (8), 101169 (2024)
   PUBMED   38785164
  REMARK    GeneRIF: Heterogeneity of comprehensive clinical phenotype and
            longitudinal adaptive function and correlation with computational
            predictions of severity of missense genotypes in KIF1A-associated
            neurological disorder.
REFERENCE   3  (residues 1 to 1791)
  AUTHORS   Lin,J., Li,N., Yao,R., Yu,T., Wang,X. and Wang,J.
  TITLE     Autosomal dominant neurodevelopmental disorders associated with
            KIF1A gene variants in 6 pediatric patients
  JOURNAL   Zhejiang Da Xue Xue Bao Yi Xue Ban 52 (6), 693-700 (2023)
   PUBMED   38105687
  REMARK    GeneRIF: Autosomal dominant neurodevelopmental disorders associated
            with KIF1A gene variants in 6 pediatric patients.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1791)
  AUTHORS   Ortiz-Ortigosa,A., Calvo-Medina,R., Ruiz-Garcia,C.,
            Vera-Medialdea,R. and Ramos-Fernandez,J.M.
  TITLE     [KIF1A gene-associated neurological disease: the correlation
            between genotype and phenotype]
  JOURNAL   Rev Neurol 77 (6), 141-145 (2023)
   PUBMED   37668235
  REMARK    GeneRIF: [KIF1A gene-associated neurological disease: the
            correlation between genotype and phenotype].
REFERENCE   5  (residues 1 to 1791)
  AUTHORS   Keller,M.P., Seifried,B.A., Rabin,B.A. and Chance,P.F.
  TITLE     Mapping of the kinesin-related gene ATSV to chromosome 2q37
  JOURNAL   Hum Genet 104 (3), 254-256 (1999)
   PUBMED   10323250
REFERENCE   6  (residues 1 to 1791)
  AUTHORS   Furlong,R.A., Zhou,C.Y., Ferguson-Smith,M.A. and Affara,N.A.
  TITLE     Characterization of a kinesin-related gene ATSV, within the
            tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34
  JOURNAL   Genomics 33 (3), 421-429 (1996)
   PUBMED   8661001
REFERENCE   7  (residues 1 to 1791)
  AUTHORS   Okada,Y., Yamazaki,H., Sekine-Aizawa,Y. and Hirokawa,N.
  TITLE     The neuron-specific kinesin superfamily protein KIF1A is a unique
            monomeric motor for anterograde axonal transport of synaptic
            vesicle precursors
  JOURNAL   Cell 81 (5), 769-780 (1995)
   PUBMED   7539720
REFERENCE   8  (residues 1 to 1791)
  AUTHORS   Kurth,I.
  TITLE     Hereditary Sensory and Autonomic Neuropathy Type II
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21089229
REFERENCE   9  (residues 1 to 1791)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
REFERENCE   10 (residues 1 to 1791)
  AUTHORS   Otsuka,A.J., Jeyaprakash,A., Garcia-Anoveros,J., Tang,L.Z.,
            Fisk,G., Hartshorne,T., Franco,R. and Born,T.
  TITLE     The C. elegans unc-104 gene encodes a putative kinesin heavy
            chain-like protein
  JOURNAL   Neuron 6 (1), 113-122 (1991)
   PUBMED   1846075
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC112784.5 and AC011298.7.
            
            Summary: The protein encoded by this gene is a member of the
            kinesin family and functions as an anterograde motor protein that
            transports membranous organelles along axonal microtubules.
            Mutations at this locus have been associated with spastic
            paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively
            spliced transcript variants encoding distinct isoforms have been
            described. [provided by RefSeq, Apr 2012].
            
            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##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000498729.9/ ENSP00000438388.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1791
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     Protein         1..1791
                     /product="kinesin-like protein KIF1A isoform 1"
                     /note="kinesin, heavy chain, member 1A, homolog of mouse;
                     kinesin-like protein KIF1A; microtubule-based motor KIF1A;
                     unc-104- and KIF1A-related protein; axonal transporter of
                     synaptic vesicles"
                     /calculated_mol_wt=201929
     Region          4..361
                     /region_name="KISc_KIF1A_KIF1B"
                     /note="Kinesin motor domain, KIF1_like proteins; cd01365"
                     /db_xref="CDD:276816"
     Site            order(13,97,100,102..105,248)
                     /site_type="other"
                     /note="ATP binding site [chemical binding]"
                     /db_xref="CDD:276816"
     Site            order(307,310,313)
                     /site_type="other"
                     /note="microtubule interaction site [polypeptide binding]"
                     /db_xref="CDD:276816"
     Region          358..524
                     /region_name="Kinesin_assoc"
                     /note="Kinesin-associated; pfam16183"
                     /db_xref="CDD:465047"
     Region          500..614
                     /region_name="FHA_KIF1A"
                     /note="forkhead associated (FHA) domain found in
                     kinesin-like protein KIF1A; cd22726"
                     /db_xref="CDD:438778"
     Site            order(507..508,510..511,513..519,521..522,524..525,
                     534..535,537,602,604,606,610)
                     /site_type="other"
                     /note="homodimer interface [polypeptide binding]"
                     /db_xref="CDD:438778"
     Region          633..>686
                     /region_name="ERM_helical"
                     /note="Ezrin/radixin/moesin, alpha-helical domain;
                     pfam20492"
                     /db_xref="CDD:466641"
     Region          814..861
                     /region_name="KIF1B"
                     /note="Kinesin protein 1B; pfam12423"
                     /db_xref="CDD:463574"
     Region          1250..1397
                     /region_name="DUF3694"
                     /note="Kinesin protein; pfam12473"
                     /db_xref="CDD:463599"
     Region          1672..1774
                     /region_name="PH_KIFIA_KIFIB"
                     /note="KIFIA and KIFIB protein pleckstrin homology (PH)
                     domain; cd01233"
                     /db_xref="CDD:269939"
     CDS             1..1791
                     /gene="KIF1A"
                     /gene_synonym="ATSV; C2orf20; HSN2C; MRD9; NESCAVS; SPG30;
                     SPG30A; SPG30B; UNC104"
                     /coded_by="NM_001244008.2:159..5534"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS58757.1"
                     /db_xref="GeneID:547"
                     /db_xref="HGNC:HGNC:888"
                     /db_xref="MIM:601255"
ORIGIN      
        1 magasvkvav rvrpfnsrem srdskciiqm sgstttivnp kqpketpksf sfdysywsht
       61 spedinyasq kqvyrdigee mlqhafegyn vcifaygqtg agksytmmgk qekdqqgiip
      121 qlcedlfsri ndttndnmsy svevsymeiy cervrdllnp knkgnlrvre hpllgpyved
      181 lsklavtsyn diqdlmdsgn kartvaatnm netssrshav fniiftqkrh daetnittek
      241 vskislvdla gseradstga kgtrlkegan inkslttlgk visalaemds gpnknkkkkk
      301 tdfipyrdsv ltwllrenlg gnsrtamvaa lspadinyde tlstlryadr akqircnavi
      361 nedpnnklir elkdevtrlr dllyaqglgd itdtntvpgg pkltnalvgm spssslsals
      421 sraasvsslh erilfapgse eaierlkete kiiaelnetw eeklrrteai rmereallae
      481 mgvamredgg tlgvfspkkt phlvnlnedp lmsecllyyi kdgitrvgre dgerrqdivl
      541 sghfikeehc vfrsdsrggs eavvtlepce gadtyvngkk vtepsilrsg nriimgkshv
      601 frfnhpeqar qerertpcae tpaepvdwaf aqrellekqg idmkqemeqr lqeledqyrr
      661 ereeatylle qqrldyeskl ealqkqmdsr yypevneeee epedevqwte recelalwaf
      721 rkwkwyqfts lrdllwgnai flkeanaisv elkkkvqfqf vlltdtlysp lppdllppea
      781 akdretrpfp rtivavevqd qkngathywt leklrqrldl mremydraae vpssviedcd
      841 nvvtggdpfy drfpwfrlvg ssaisgcnsy pllntcmser maaltpsptf sspdsdatep
      901 aeeqsvgeee eeeeeeedee eedleddvfp ehalcdgrdp fydrpplfsl vgrafvylsn
      961 llypvplvhr vaivsekgev kgflrvavqa isadeeapdy gsgvrqsgta kisfddqhfe
     1021 kfqsescpvv gmsrsgtsqe elrivegqgq gadvgpsade vnnntcsavp pegllldsse
     1081 kaaldgplda aldhlrlgnt ftfrvtvlqa ssisaeyadi fcqfnfihrh deafsteplk
     1141 ntgrgpplgf yhvqniavev tksfieyiks qpivfevfgh yqqhpfpplc kdvlsplrps
     1201 rrhfprvmpl skpvpatkls tltrpcpgpc hckydllvyf eiceleangd yipavvdhrg
     1261 gmpcmgtfll hqgiqrritv tllhetgshi rwkevrelvv grirntpetd eslidpnils
     1321 lnilssgyih paqddrtfyq feaawdssmh nslllnrvtp yrekiymtls ayiemenctq
     1381 pavvtkdfcm vfysrdaklp asrsirnlfg sgslrasesn rvtgvyelsl chvadagspg
     1441 mqrrrrrvld tsvayvrgee nlagwrprsd slildhqwel eklsllqeve ktrhylllre
     1501 kletaqrpvp ealspafsed seshgsssas splsaegrps pleapnerqr elavkclrll
     1561 thtfnreyth shvcvsases klsemsvtll rdpsmsplgv atltpsstcp slvegrygat
     1621 dlrtpqpcsr paspepellp eadskklpsp aratetdkep qrllvpdiqe irvspivskk
     1681 gylhflepht sgwarrfvvv rrpyaymyns dkdtverfvl nlataqveys edqqamlktp
     1741 ntfavctehr gillqaasdk dmhdwlyafn pllagtirsk lsrrrsaqmr v
//
