Details for: KIF1A
Associated with
Other Information
Genular Protein ID: 2608053695
Symbol: KIF1A_HUMAN
Name: Kinesin-like protein KIF1A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8661001
Title: Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9q34.
PubMed ID: 8661001
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 21820098
Title: KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
PubMed ID: 21820098
PubMed ID: 21376300
Title: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
PubMed ID: 21376300
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 30021165
Title: Regulation of KIF1A-Driven Dense Core Vesicle Transport: Ca2+/CaM Controls DCV Binding and Liprin-alpha/TANC2 Recruits DCVs to Postsynaptic Sites.
PubMed ID: 30021165
PubMed ID: 25585697
Title: Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
PubMed ID: 25585697
PubMed ID: 26410750
Title: Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
PubMed ID: 26410750
PubMed ID: 21487076
Title: Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
PubMed ID: 21487076
PubMed ID: 22258533
Title: KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
PubMed ID: 22258533
PubMed ID: 25253658
Title: KIF1A mutation in a patient with progressive neurodegeneration.
PubMed ID: 25253658
DOI: 10.1038/jhg.2014.80
PubMed ID: 26125038
Title: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
PubMed ID: 26125038
DOI: 10.1002/acn3.198
PubMed ID: 26354034
Title: De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
PubMed ID: 26354034
DOI: 10.1038/jhg.2015.108
PubMed ID: 25265257
Title: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
PubMed ID: 25265257
DOI: 10.1002/humu.22709
PubMed ID: 26486474
Title: De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
PubMed ID: 26486474
PubMed ID: 27034427
Title: Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
PubMed ID: 27034427
PubMed ID: 29159194
Title: Multigeneration family with dominant SPG30 hereditary spastic paraplegia.
PubMed ID: 29159194
DOI: 10.1002/acn3.452
PubMed ID: 28832565
Title: Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
PubMed ID: 28832565
PubMed ID: 28834584
Title: A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
PubMed ID: 28834584
DOI: 10.1111/jns.12235
PubMed ID: 29934652
Title: Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
PubMed ID: 29934652
PubMed ID: 31796088
Title: Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report.
PubMed ID: 31796088
PubMed ID: 31488895
Title: KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
PubMed ID: 31488895
PubMed ID: 32652677
Title: Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
PubMed ID: 32652677
DOI: 10.1002/humu.24079
PubMed ID: 32096284
Title: KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
PubMed ID: 32096284
DOI: 10.1111/jns.12368
PubMed ID: 31805580
Title: Mobility characteristics of children with spastic paraplegia due to a mutation in the KIF1A gene.
PubMed ID: 31805580
PubMed ID: 33880452
Title: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
PubMed ID: 33880452
Sequence Information:
- Length: 1690
- Mass: 191064
- Checksum: FB3CA33B7060AF60
- Sequence:
MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF SFDYSYWSHT SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG AGKSYTMMGK QEKDQQGIIP QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED LSKLAVTSYN DIQDLMDSGN KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIRCNAVI NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDMTNALVG MSPSSSLSAL SSRAASVSSL HERILFAPGS EEAIERLKET EKIIAELNET WEEKLRRTEA IRMEREALLA EMGVAMREDG GTLGVFSPKK TPHLVNLNED PLMSECLLYY IKDGITRVGR EDGERRQDIV LSGHFIKEEH CVFRSDSRGG SEAVVTLEPC EGADTYVNGK KVTEPSILRS GNRIIMGKSH VFRFNHPEQA RQERERTPCA ETPAEPVDWA FAQRELLEKQ GIDMKQEMEQ RLQELEDQYR REREEATYLL EQQRLDYESK LEALQKQMDS RYYPEVNEEE EEPEDEVQWT ERECELALWA FRKWKWYQFT SLRDLLWGNA IFLKEANAIS VELKKKVQFQ FVLLTDTLYS PLPPDLLPPE AAKDRETRPF PRTIVAVEVQ DQKNGATHYW TLEKLRQRLD LMREMYDRAA EVPSSVIEDC DNVVTGGDPF YDRFPWFRLV GRAFVYLSNL LYPVPLVHRV AIVSEKGEVK GFLRVAVQAI SADEEAPDYG SGVRQSGTAK ISFDDQHFEK FQSESCPVVG MSRSGTSQEE LRIVEGQGQG ADVGPSADEV NNNTCSAVPP EGLLLDSSEK AALDGPLDAA LDHLRLGNTF TFRVTVLQAS SISAEYADIF CQFNFIHRHD EAFSTEPLKN TGRGPPLGFY HVQNIAVEVT KSFIEYIKSQ PIVFEVFGHY QQHPFPPLCK DVLSPLRPSR RHFPRVMPLS KPVPATKLST LTRPCPGPCH CKYDLLVYFE ICELEANGDY IPAVVDHRGG MPCMGTFLLH QGIQRRITVT LLHETGSHIR WKEVRELVVG RIRNTPETDE SLIDPNILSL NILSSGYIHP AQDDRTFYQF EAAWDSSMHN SLLLNRVTPY REKIYMTLSA YIEMENCTQP AVVTKDFCMV FYSRDAKLPA SRSIRNLFGS GSLRASESNR VTGVYELSLC HVADAGSPGM QRRRRRVLDT SVAYVRGEEN LAGWRPRSDS LILDHQWELE KLSLLQEVEK TRHYLLLREK LETAQRPVPE ALSPAFSEDS ESHGSSSASS PLSAEGRPSP LEAPNERQRE LAVKCLRLLT HTFNREYTHS HVCVSASESK LSEMSVTLLR DPSMSPLGVA TLTPSSTCPS LVEGRYGATD LRTPQPCSRP ASPEPELLPE ADSKKLPSPA RATETDKEPQ RLLVPDIQEI RVSPIVSKKG YLHFLEPHTS GWARRFVVVR RPYAYMYNSD KDTVERFVLN LATAQVEYSE DQQAMLKTPN TFAVCTEHRG ILLQAASDKD MHDWLYAFNP LLAGTIRSKL SRRRSAQMRV
Genular Protein ID: 2508115858
Symbol: A0A3B3IU40_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
Sequence Information:
- Length: 1699
- Mass: 191898
- Checksum: D1FE33C15470BDA8
- Sequence:
MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF SFDYSYWSHT SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG AGKSYTMMGK QEKDQQGIIP QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED LSKLAVTSYN DIQDLMDSGN KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIRCNAVI NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDTNTVPGG PKLTNALVGM SPSSSLSALS SRAASVSSLH ERILFAPGSE EAIERLKETE KIIAELNETW EEKLRRTEAI RMEREALLAE MGVAMREDGG TLGVFSPKKT PHLVNLNEDP LMSECLLYYI KDGITRVGRE DGERRQDIVL SGHFIKEEHC VFRSDSRGGS EAVVTLEPCE GADTYVNGKK VTEPSILRSG NRIIMGKSHV FRFNHPEQAR QERERTPCAE TPAEPVDWAF AQRELLEKQG IDMKQEMEQR LQELEDQYRR EREEATYLLE QQRLDYESKL EALQKQMDSR YYPEVNEEEE EPEDEVQWTE RECELALWAF RKWKWYQFTS LRDLLWGNAI FLKEANAISV ELKKKVQFQF VLLTDTLYSP LPPDLLPPEA AKDRETRPFP RTIVAVEVQD QKNGATHYWT LEKLRQRLDL MREMYDRAAE VPSSVIEDCD NVVTGGDPFY DRFPWFRLVG RAFVYLSNLL YPVPLVHRVA IVSEKGEVKG FLRVAVQAIS ADEEAPDYGS GVRQSGTAKI SFDDQHFEKF QSESCPVVGM SRSGTSQEEL RIVEGQGQGA DVGPSADEVN NNTCSAVPPE GLLLDSSEKA ALDGPLDAAL DHLRLGNTFT FRVTVLQASS ISAEYADIFC QFNFIHRHDE AFSTEPLKNT GRGPPLGFYH VQNIAVEVTK SFIEYIKSQP IVFEVFGHYQ QHPFPPLCKD VLSPLRPSRR HFPRVMPLSK PVPATKLSTL TRPCPGPCHC KYDLLVYFEI CELEANGDYI PAVVDHRGGM PCMGTFLLHQ GIQRRITVTL LHETGSHIRW KEVRELVVGR IRNTPETDES LIDPNILSLN ILSSGYIHPA QDDRTFYQFE AAWDSSMHNS LLLNRVTPYR EKIYMTLSAY IEMENCTQPA VVTKDFCMVF YSRDAKLPAS RSIRNLFGSG SLRASESNRV TGVYELSLCH VADAGSPGMQ RRRRRVLDTS VAYVRGEENL AGWRPRSDSL ILDHQWELEK LSLLQEVEKT RHYLLLREKL ETAQRPVPEA LSPAFSEDSE SHGSSSASSP LSAEGRPSPL EAPNERQREL AVKCLRLLTH TFNREYTHSH VCVSASESKL SEMSVTLLRD PSMSPLGVAT LTPSSTCPSL VEGRYGATDL RTPQPCSRPA SPEPELLPEA DSKKLPSPAR ATETDKEPQR LLVPDIQEIR VSPIVSKKGY LHFLEPHTSG WARRFVVVRR PYAYMYNSDK DTVERFVLNL ATAQVEYSED QQAMLKTPNT FAVCTEHRGI LLQAASDKDM HDWLYAFNPL LAGTIRSKLS RRRSAQMRV
Genular Protein ID: 432755203
Symbol: A0A3B3IT28_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
Sequence Information:
- Length: 1708
- Mass: 192970
- Checksum: 1704D8FC2783AD21
- Sequence:
MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF SFDYSYWSHT SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG AGKSYTMMGK QEKDQQGIIP QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED LSKLAVTSYN DIQDLMDSGN KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIRCNAVI NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDTNTVPGG PKLTNALVGM SPSSSLSALS SRAASVSSLH ERILFAPGSE EAIERLKETE KIIAELNETW EEKLRRTEAI RMEREALLAE MGVAMREDGG TLGVFSPKKT PHLVNLNEDP LMSECLLYYI KDGITRVGRE DGERRQDIVL SGHFIKEEHC VFRSDSRGGS EAVVTLEPCE GADTYVNGKK VTEPSILRSG NRIIMGKSHV FRFNHPEQAR QERERTPCAE TPAEPVDWAF AQRELLEKQG IDMKQEMEQR LQELEDQYRR EREEATYLLE QQRLDYESKL EALQKQMDSR YYPEVNEEEE EPEDEVQWTE RECELALWAF RKWKWYQFTS LRDLLWGNAI FLKEANAISV ELKKKVQFQF VLLTDTLYSP LPPDLLPPEA AKDRETRPFP RTIVAVEVQD QKNGATHYWT LEKLRQRLDL MREMYDRAAE VPSSVIEDCD NVVTGGDPFY DRFPWFRLVG RAFVYLSNLL YPVPLVHRVA IVSEKGEVKG FLRVAVQAIS ADEEAPDYGS GVRQSGTAKI SFDDQHFEKF QSESCPVVGM SRSGTSQEEL RIVEGQGQGA DVGPSADEVN NNTCSAVPPE GLLLDSSEKA ALDGPLDAAL DHLRLGNTFT FRVTVLQASS ISAEYADIFC QFNFIHRHDE AFSTEPLKNT GRGPPLGFYH VQNIAVEVTK SFIEYIKSQP IVFEVFGHYQ QHPFPPLCKD VLSPLRPSRR HFPRVMPLSK PVPATKLSTL TRPCPGPCHC KYDLLVYFEI CELEANGDYI PAVVDHRGGM PCMGTFLLHQ GIQRRITVTL LHETGSHIRW KEVRELVVGR IRNTPETDES LIDPNILSLN ILSSGYIHPA QDDRQFLDSD IPRTFYQFEA AWDSSMHNSL LLNRVTPYRE KIYMTLSAYI EMENCTQPAV VTKDFCMVFY SRDAKLPASR SIRNLFGSGS LRASESNRVT GVYELSLCHV ADAGSPGMQR RRRRVLDTSV AYVRGEENLA GWRPRSDSLI LDHQWELEKL SLLQEVEKTR HYLLLREKLE TAQRPVPEAL SPAFSEDSES HGSSSASSPL SAEGRPSPLE APNERQRELA VKCLRLLTHT FNREYTHSHV CVSASESKLS EMSVTLLRDP SMSPLGVATL TPSSTCPSLV EGRYGATDLR TPQPCSRPAS PEPELLPEAD SKKLPSPARA TETDKEPQRL LVPDIQEIRV SPIVSKKGYL HFLEPHTSGW ARRFVVVRRP YAYMYNSDKD TVERFVLNLA TAQVEYSEDQ QAMLKTPNTF AVCTEHRGIL LQAASDKDMH DWLYAFNPLL AGTIRSKLSR RRSAQMRV
Genular Protein ID: 1111105731
Symbol: A0A3B3ITE5_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15815621
Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
PubMed ID: 15815621
DOI: 10.1038/nature03466
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
Sequence Information:
- Length: 1724
- Mass: 194556
- Checksum: 038AE5CE2C4B2BFE
- Sequence:
MAGASVKVAV RVRPFNSREM SRDSKCIIQM SGSTTTIVNP KQPKETPKSF SFDYSYWSHT SPEDINYASQ KQVYRDIGEE MLQHAFEGYN VCIFAYGQTG AGKSYTMMGK QEKDQQGIIP QLCEDLFSRI NDTTNDNMSY SVEVSYMEIY CERVRDLLNP KNKGNLRVRE HPLLGPYVED LSKLAVTSYN DIQDLMDSGN KARTVAATNM NETSSRSHAV FNIIFTQKRH DAETNITTEK VSKISLVDLA GSERADSTGA KGTRLKEGAN INKSLTTLGK VISALAEMDS GPNKNKKKKK TDFIPYRDSV LTWLLRENLG GNSRTAMVAA LSPADINYDE TLSTLRYADR AKQIRCNAVI NEDPNNKLIR ELKDEVTRLR DLLYAQGLGD ITDTNTVPGG PKYVSDLENN NLNRGGTVNE APDPLSTVTN ALVGMSPSSS LSALSSRAAS VSSLHERILF APGSEEAIER LKETEKIIAE LNETWEEKLR RTEAIRMERE ALLAEMGVAM REDGGTLGVF SPKKTPHLVN LNEDPLMSEC LLYYIKDGIT RVGREDGERR QDIVLSGHFI KEEHCVFRSD SRGGSEAVVT LEPCEGADTY VNGKKVTEPS ILRSGNRIIM GKSHVFRFNH PEQARQERER TPCAETPAEP VDWAFAQREL LEKQGIDMKQ EMEQRLQELE DQYRREREEA TYLLEQQRLD YESKLEALQK QMDSRYYPEV NEEEEEPEDE VQWTERECEL ALWAFRKWKW YQFTSLRDLL WGNAIFLKEA NAISVELKKK VQFQFVLLTD TLYSPLPPDL LPPEAAKDRE TRPFPRTIVA VEVQDQKNGA THYWTLEKLR QRLDLMREMY DRAAEVPSSV IEDCDNVVTG GDPFYDRFPW FRLVGRAFVY LSNLLYPVPL VHRVAIVSEK GEVKGFLRVA VQAISADEEA PDYGSGVRQS GTAKISFDDQ HFEKFQSESC PVVGMSRSGT SQEELRIVEG QGQGADVGPS ADEVNNNTCS AVPPEGLLLD SSEKAALDGP LDAALDHLRL GNTFTFRVTV LQASSISAEY ADIFCQFNFI HRHDEAFSTE PLKNTGRGPP LGFYHVQNIA VEVTKSFIEY IKSQPIVFEV FGHYQQHPFP PLCKDVLSPL RPSRRHFPRV MPLSKPVPAT KLSTLTRPCP GPCHCKYDLL VYFEICELEA NGDYIPAVVD HRGGMPCMGT FLLHQGIQRR ITVTLLHETG SHIRWKEVRE LVVGRIRNTP ETDESLIDPN ILSLNILSSG YIHPAQDDRT FYQFEAAWDS SMHNSLLLNR VTPYREKIYM TLSAYIEMEN CTQPAVVTKD FCMVFYSRDA KLPASRSIRN LFGSGSLRAS ESNRVTGVYE LSLCHVADAG SPGMQRRRRR VLDTSVAYVR GEENLAGWRP RSDSLILDHQ WELEKLSLLQ EVEKTRHYLL LREKLETAQR PVPEALSPAF SEDSESHGSS SASSPLSAEG RPSPLEAPNE RQRELAVKCL RLLTHTFNRE YTHSHVCVSA SESKLSEMSV TLLRDPSMSP LGVATLTPSS TCPSLVEGRY GATDLRTPQP CSRPASPEPE LLPEADSKKL PSPARATETD KEPQRLLVPD IQEIRVSPIV SKKGYLHFLE PHTSGWARRF VVVRRPYAYM YNSDKDTVER FVLNLATAQV EYSEDQQAML KTPNTFAVCT EHRGILLQAA SDKDMHDWLY AFNPLLAGTI RSKLSRRRSA QMRV
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.