UniProtKB - Q5VV43 (K0319_HUMAN)
Protein
Dyslexia-associated protein KIAA0319
Gene
KIAA0319
Organism
Homo sapiens (Human)
Status
Functioni
Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.1 Publication
GO - Biological processi
- membrane organization Source: Reactome
- multicellular organismal response to stress Source: Ensembl
- negative regulation of axon extension Source: MGI
- negative regulation of axon extension involved in regeneration Source: MGI
- negative regulation of dendrite development Source: UniProtKB
- neuron migration Source: UniProtKB
- positive regulation of SMAD protein signal transduction Source: MGI
- response to auditory stimulus Source: Ensembl
Keywordsi
Molecular function | Developmental protein |
Biological process | Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q5VV43 |
Reactomei | R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828, Clathrin-mediated endocytosis |
Names & Taxonomyi
Protein namesi | Recommended name: Dyslexia-associated protein KIAA0319 |
Gene namesi | Name:KIAA0319 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21580, KIAA0319 |
MIMi | 609269, gene |
neXtProti | NX_Q5VV43 |
VEuPathDBi | HostDB:ENSG00000137261.13 |
Subcellular locationi
Endosome
- Early endosome membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Plasma membrane
- Cell membrane 2 Publications; Single-pass type I membrane protein 1 Publication
Note: Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.1 Publication
Endosome
- early endosome Source: UniProtKB
- early endosome membrane Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- clathrin-coated endocytic vesicle membrane Source: Reactome
- cytoplasmic vesicle Source: GO_Central
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: HPA
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 21 – 955 | ExtracellularSequence analysisAdd BLAST | 935 | |
Transmembranei | 956 – 976 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 977 – 1072 | CytoplasmicSequence analysisAdd BLAST | 96 |
Keywords - Cellular componenti
Cell membrane, Endosome, MembranePathology & Biotechi
Involvement in diseasei
Dyslexia 2 (DYX2)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.
Related information in OMIMMutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 995 | Y → A: Loss of interaction with AP2M1 and impaired endocytosis. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 9856 |
MalaCardsi | KIAA0319 |
MIMi | 600202, phenotype |
OpenTargetsi | ENSG00000137261 |
PharmGKBi | PA134936721 |
Miscellaneous databases
Pharosi | Q5VV43, Tbio |
Genetic variation databases
BioMutai | KIAA0319 |
DMDMi | 74747200 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 20 | Sequence analysisAdd BLAST | 20 | |
ChainiPRO_0000042946 | 21 – 1072 | Dyslexia-associated protein KIAA0319Add BLAST | 1052 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 196 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 219 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 262 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 394 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 421 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 498 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 513 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 536 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 551 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 733 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
N-glycosylated.1 Publication
O-glycosylated.1 Publication
Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.1 Publication
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | Q5VV43 |
MassIVEi | Q5VV43 |
MaxQBi | Q5VV43 |
PaxDbi | Q5VV43 |
PeptideAtlasi | Q5VV43 |
PRIDEi | Q5VV43 |
ProteomicsDBi | 25518 65441 [Q5VV43-1] 65442 [Q5VV43-2] 65443 [Q5VV43-3] |
PTM databases
GlyGeni | Q5VV43, 10 sites |
iPTMneti | Q5VV43 |
PhosphoSitePlusi | Q5VV43 |
Expressioni
Tissue specificityi
Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.2 Publications
Developmental stagei
Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain.1 Publication
Gene expression databases
Bgeei | ENSG00000137261, Expressed in middle temporal gyrus and 123 other tissues |
ExpressionAtlasi | Q5VV43, baseline and differential |
Genevisiblei | Q5VV43, HS |
Organism-specific databases
HPAi | ENSG00000137261, Tissue enriched (brain) |
Interactioni
Subunit structurei
Homodimer.
Interacts with AP2M1; required for clathrin-mediated endocytosis.
2 PublicationsProtein-protein interaction databases
BioGRIDi | 115190, 4 interactors |
IntActi | Q5VV43, 5 interactors |
STRINGi | 9606.ENSP00000367459 |
Miscellaneous databases
RNActi | Q5VV43, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q5VV43 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q5VV43 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 21 – 99 | MANSCPROSITE-ProRule annotationAdd BLAST | 79 | |
Domaini | 341 – 427 | PKD 1PROSITE-ProRule annotationAdd BLAST | 87 | |
Domaini | 435 – 524 | PKD 2PROSITE-ProRule annotationAdd BLAST | 90 | |
Domaini | 530 – 620 | PKD 3PROSITE-ProRule annotationAdd BLAST | 91 | |
Domaini | 621 – 714 | PKD 4PROSITE-ProRule annotationAdd BLAST | 94 | |
Domaini | 720 – 811 | PKD 5PROSITE-ProRule annotationAdd BLAST | 92 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 995 – 998 | Endocytosis signal | 4 |
Keywords - Domaini
Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QR8M, Eukaryota |
GeneTreei | ENSGT00940000161462 |
HOGENOMi | CLU_009448_0_1_1 |
InParanoidi | Q5VV43 |
OMAi | WSVFYVT |
OrthoDBi | 476157at2759 |
PhylomeDBi | Q5VV43 |
TreeFami | TF323356 |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR013783, Ig-like_fold IPR029865, KIAA0319-like IPR013980, MANSC_dom IPR011106, MANSC_N IPR022409, PKD/Chitinase_dom IPR002859, PKD/REJ-like IPR000601, PKD_dom IPR035986, PKD_dom_sf |
PANTHERi | PTHR46182, PTHR46182, 1 hit |
Pfami | View protein in Pfam PF02010, REJ, 1 hit |
SMARTi | View protein in SMART SM00060, FN3, 4 hits SM00765, MANEC, 1 hit SM00089, PKD, 5 hits |
SUPFAMi | SSF49299, SSF49299, 4 hits |
PROSITEi | View protein in PROSITE PS50986, MANSC, 1 hit PS50093, PKD, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketNote: Additional isoforms seem to exist.
This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5VV43-1) [UniParc]FASTAAdd to basket
Also known as: A
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAPPTGVLSS LLLLVTIAGC ARKQCSEGRT YSNAVISPNL ETTRIMRVSH
60 70 80 90 100
TFPVVDCTAA CCDLSSCDLA WWFEGRCYLV SCPHKENCEP KKMGPIRSYL
110 120 130 140 150
TFVLRPVQRP AQLLDYGDMM LNRGSPSGIW GDSPEDIRKD LTFLGKDWGL
160 170 180 190 200
EEMSEYSDDY RELEKDLLQP SGKQEPRGSA EYTDWGLLPG SEGAFNSSVG
210 220 230 240 250
DSPAVPAETQ QDPELHYLNE SASTPAPKLP ERSVLLPLPT TPSSGEVLEK
260 270 280 290 300
EKASQLQEQS SNSSGKEVLM PSHSLPPASL ELSSVTVEKS PVLTVTPGST
310 320 330 340 350
EHSIPTPPTS AAPSESTPSE LPISPTTAPR TVKELTVSAG DNLIITLPDN
360 370 380 390 400
EVELKAFVAP APPVETTYNY EWNLISHPTD YQGEIKQGHK QTLNLSQLSV
410 420 430 440 450
GLYVFKVTVS SENAFGEGFV NVTVKPARRV NLPPVAVVSP QLQELTLPLT
460 470 480 490 500
SALIDGSQST DDTEIVSYHW EEINGPFIEE KTSVDSPVLR LSNLDPGNYS
510 520 530 540 550
FRLTVTDSDG ATNSTTAALI VNNAVDYPPV ANAGPNHTIT LPQNSITLNG
560 570 580 590 600
NQSSDDHQIV LYEWSLGPGS EGKHVVMQGV QTPYLHLSAM QEGDYTFQLK
610 620 630 640 650
VTDSSRQQST AVVTVIVQPE NNRPPVAVAG PDKELIFPVE SATLDGSSSS
660 670 680 690 700
DDHGIVFYHW EHVRGPSAVE MENIDKAIAT VTGLQVGTYH FRLTVKDQQG
710 720 730 740 750
LSSTSTLTVA VKKENNSPPR ARAGGRHVLV LPNNSITLDG SRSTDDQRIV
760 770 780 790 800
SYLWIRDGQS PAAGDVIDGS DHSVALQLTN LVEGVYTFHL RVTDSQGASD
810 820 830 840 850
TDTATVEVQP DPRKSGLVEL TLQVGVGQLT EQRKDTLVRQ LAVLLNVLDS
860 870 880 890 900
DIKVQKIRAH SDLSTVIVFY VQSRPPFKVL KAAEVARNLH MRLSKEKADF
910 920 930 940 950
LLFKVLRVDT AGCLLKCSGH GHCDPLTKRC ICSHLWMENL IQRYIWDGES
960 970 980 990 1000
NCEWSIFYVT VLAFTLIVLT GGFTWLCICC CKRQKRTKIR KKTKYTILDN
1010 1020 1030 1040 1050
MDEQERMELR PKYGIKHRST EHNSSLMVSE SEFDSDQDTI FSREKMERGN
1060 1070
PKVSMNGSIR NGASFSYCSK DR
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087X0U9 | A0A087X0U9_HUMAN | Dyslexia-associated protein KIAA031... | KIAA0319 | 483 | Annotation score: |
Sequence cautioni
The sequence BAA20777 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 97 | R → S in BAG58068 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 157 | S → A in BAA20777 (PubMed:9205841).Curated | 1 | |
Sequence conflicti | 157 | S → A in AAI52461 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 256 | L → H in BAG59087 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 926 | L → I in AAI44629 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023837 | 142 | T → P3 PublicationsCorresponds to variant dbSNP:rs4576240Ensembl. | 1 | |
Natural variantiVAR_023838 | 311 | A → T May be associated with susceptibility to dyslexia. 3 PublicationsCorresponds to variant dbSNP:rs4504469Ensembl. | 1 | |
Natural variantiVAR_049505 | 567 | G → S. Corresponds to variant dbSNP:rs2744559Ensembl. | 1 | |
Natural variantiVAR_049506 | 773 | S → G. Corresponds to variant dbSNP:rs2744550Ensembl. | 1 | |
Natural variantiVAR_049507 | 774 | V → A. Corresponds to variant dbSNP:rs2817191Ensembl. | 1 | |
Natural variantiVAR_034032 | 919 | G → A. Corresponds to variant dbSNP:rs10946705EnsemblClinVar. | 1 | |
Natural variantiVAR_049508 | 1013 | Y → C. Corresponds to variant dbSNP:rs807534Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036234 | 1 – 45 | Missing in isoform 3. 1 PublicationAdd BLAST | 45 | |
Alternative sequenceiVSP_036235 | 1 – 19 | MAPPT…VTIAG → MTRLGWPSPC in isoform 2. 2 PublicationsAdd BLAST | 19 | |
Alternative sequenceiVSP_044971 | 953 – 1013 | Missing in isoform 4. CuratedAdd BLAST | 61 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB002317 mRNA Translation: BAA20777.2 Different initiation. AK295008 mRNA Translation: BAG58068.1 AK296310 mRNA Translation: BAG59008.1 AK296426 mRNA Translation: BAG59087.1 AL512385 Genomic DNA No translation available. AL031230 Genomic DNA No translation available. BC140821 mRNA Translation: AAI40822.1 BC144628 mRNA Translation: AAI44629.1 BC152460 mRNA Translation: AAI52461.1 |
CCDSi | CCDS34348.1 [Q5VV43-1] CCDS54969.1 [Q5VV43-3] CCDS54970.1 [Q5VV43-2] CCDS54971.1 [Q5VV43-4] |
RefSeqi | NP_001161846.1, NM_001168374.1 [Q5VV43-2] NP_001161847.1, NM_001168375.1 [Q5VV43-1] NP_001161848.1, NM_001168376.1 [Q5VV43-3] NP_001161849.1, NM_001168377.1 [Q5VV43-4] NP_055624.2, NM_014809.3 [Q5VV43-1] XP_011513327.1, XM_011515025.2 XP_011513328.1, XM_011515026.2 [Q5VV43-3] XP_016867030.1, XM_017011541.1 [Q5VV43-2] XP_016867034.1, XM_017011545.1 |
Genome annotation databases
Ensembli | ENST00000378214; ENSP00000367459; ENSG00000137261 [Q5VV43-1] ENST00000430948; ENSP00000401086; ENSG00000137261 [Q5VV43-3] ENST00000535378; ENSP00000442403; ENSG00000137261 [Q5VV43-2] ENST00000537886; ENSP00000439700; ENSG00000137261 [Q5VV43-4] ENST00000543707; ENSP00000437656; ENSG00000137261 [Q5VV43-1] |
GeneIDi | 9856 |
KEGGi | hsa:9856 |
UCSCi | uc003neh.2, human [Q5VV43-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Protein Spotlight The twisted way of things - Issue 125 of January 2011 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB002317 mRNA Translation: BAA20777.2 Different initiation. AK295008 mRNA Translation: BAG58068.1 AK296310 mRNA Translation: BAG59008.1 AK296426 mRNA Translation: BAG59087.1 AL512385 Genomic DNA No translation available. AL031230 Genomic DNA No translation available. BC140821 mRNA Translation: AAI40822.1 BC144628 mRNA Translation: AAI44629.1 BC152460 mRNA Translation: AAI52461.1 |
CCDSi | CCDS34348.1 [Q5VV43-1] CCDS54969.1 [Q5VV43-3] CCDS54970.1 [Q5VV43-2] CCDS54971.1 [Q5VV43-4] |
RefSeqi | NP_001161846.1, NM_001168374.1 [Q5VV43-2] NP_001161847.1, NM_001168375.1 [Q5VV43-1] NP_001161848.1, NM_001168376.1 [Q5VV43-3] NP_001161849.1, NM_001168377.1 [Q5VV43-4] NP_055624.2, NM_014809.3 [Q5VV43-1] XP_011513327.1, XM_011515025.2 XP_011513328.1, XM_011515026.2 [Q5VV43-3] XP_016867030.1, XM_017011541.1 [Q5VV43-2] XP_016867034.1, XM_017011545.1 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2E7M | NMR | - | A | 329-428 | [»] | |
SMRi | Q5VV43 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115190, 4 interactors |
IntActi | Q5VV43, 5 interactors |
STRINGi | 9606.ENSP00000367459 |
PTM databases
GlyGeni | Q5VV43, 10 sites |
iPTMneti | Q5VV43 |
PhosphoSitePlusi | Q5VV43 |
Genetic variation databases
BioMutai | KIAA0319 |
DMDMi | 74747200 |
Proteomic databases
jPOSTi | Q5VV43 |
MassIVEi | Q5VV43 |
MaxQBi | Q5VV43 |
PaxDbi | Q5VV43 |
PeptideAtlasi | Q5VV43 |
PRIDEi | Q5VV43 |
ProteomicsDBi | 25518 65441 [Q5VV43-1] 65442 [Q5VV43-2] 65443 [Q5VV43-3] |
Protocols and materials databases
Antibodypediai | 2465, 120 antibodies |
Genome annotation databases
Ensembli | ENST00000378214; ENSP00000367459; ENSG00000137261 [Q5VV43-1] ENST00000430948; ENSP00000401086; ENSG00000137261 [Q5VV43-3] ENST00000535378; ENSP00000442403; ENSG00000137261 [Q5VV43-2] ENST00000537886; ENSP00000439700; ENSG00000137261 [Q5VV43-4] ENST00000543707; ENSP00000437656; ENSG00000137261 [Q5VV43-1] |
GeneIDi | 9856 |
KEGGi | hsa:9856 |
UCSCi | uc003neh.2, human [Q5VV43-1] |
Organism-specific databases
CTDi | 9856 |
DisGeNETi | 9856 |
GeneCardsi | KIAA0319 |
HGNCi | HGNC:21580, KIAA0319 |
HPAi | ENSG00000137261, Tissue enriched (brain) |
MalaCardsi | KIAA0319 |
MIMi | 600202, phenotype 609269, gene |
neXtProti | NX_Q5VV43 |
OpenTargetsi | ENSG00000137261 |
PharmGKBi | PA134936721 |
VEuPathDBi | HostDB:ENSG00000137261.13 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QR8M, Eukaryota |
GeneTreei | ENSGT00940000161462 |
HOGENOMi | CLU_009448_0_1_1 |
InParanoidi | Q5VV43 |
OMAi | WSVFYVT |
OrthoDBi | 476157at2759 |
PhylomeDBi | Q5VV43 |
TreeFami | TF323356 |
Enzyme and pathway databases
PathwayCommonsi | Q5VV43 |
Reactomei | R-HSA-8856825, Cargo recognition for clathrin-mediated endocytosis R-HSA-8856828, Clathrin-mediated endocytosis |
Miscellaneous databases
BioGRID-ORCSi | 9856, 6 hits in 981 CRISPR screens |
ChiTaRSi | KIAA0319, human |
EvolutionaryTracei | Q5VV43 |
GeneWikii | KIAA0319 |
GenomeRNAii | 9856 |
Pharosi | Q5VV43, Tbio |
PROi | PR:Q5VV43 |
RNActi | Q5VV43, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000137261, Expressed in middle temporal gyrus and 123 other tissues |
ExpressionAtlasi | Q5VV43, baseline and differential |
Genevisiblei | Q5VV43, HS |
Family and domain databases
Gene3Di | 2.60.40.10, 5 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR013783, Ig-like_fold IPR029865, KIAA0319-like IPR013980, MANSC_dom IPR011106, MANSC_N IPR022409, PKD/Chitinase_dom IPR002859, PKD/REJ-like IPR000601, PKD_dom IPR035986, PKD_dom_sf |
PANTHERi | PTHR46182, PTHR46182, 1 hit |
Pfami | View protein in Pfam PF02010, REJ, 1 hit |
SMARTi | View protein in SMART SM00060, FN3, 4 hits SM00765, MANEC, 1 hit SM00089, PKD, 5 hits |
SUPFAMi | SSF49299, SSF49299, 4 hits |
PROSITEi | View protein in PROSITE PS50986, MANSC, 1 hit PS50093, PKD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | K0319_HUMAN | |
Accessioni | Q5VV43Primary (citable) accession number: Q5VV43 Secondary accession number(s): A7MD37 Q9Y4G7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 22, 2005 |
Last sequence update: | December 7, 2004 | |
Last modified: | April 7, 2021 | |
This is version 155 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Protein Spotlight
Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries