UniProtKB - P12036 (NFH_HUMAN)
Protein
Neurofilament heavy polypeptide
Gene
NEFH
Organism
Homo sapiens (Human)
Status
Functioni
Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity).By similarity
GO - Molecular functioni
- dynein complex binding Source: BHF-UCL
- kinesin binding Source: BHF-UCL
- microtubule binding Source: BHF-UCL
- protein kinase binding Source: ARUK-UCL
- protein-macromolecule adaptor activity Source: BHF-UCL
- structural constituent of cytoskeleton Source: BHF-UCL
- structural constituent of postsynaptic intermediate filament cytoskeleton Source: Ensembl
GO - Biological processi
- axon development Source: BHF-UCL
- axonogenesis Source: BHF-UCL
- cell projection assembly Source: BHF-UCL
- cellular response to leukemia inhibitory factor Source: Ensembl
- microtubule cytoskeleton organization Source: Ensembl
- neurofilament bundle assembly Source: BHF-UCL
- neurofilament cytoskeleton organization Source: Ensembl
- peripheral nervous system neuron axonogenesis Source: Ensembl
- regulation of organelle transport along microtubule Source: BHF-UCL
Enzyme and pathway databases
PathwayCommonsi | P12036 |
SIGNORi | P12036 |
Names & Taxonomyi
Protein namesi | Recommended name: Neurofilament heavy polypeptideShort name: NF-H Alternative name(s): 200 kDa neurofilament protein Neurofilament triplet H protein |
Gene namesi | Name:NEFH Synonyms:KIAA0845, NFH |
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:7737, NEFH |
MIMi | 162230, gene |
neXtProti | NX_P12036 |
VEuPathDBi | HostDB:ENSG00000100285.9 |
Subcellular locationi
Cytoskeleton
- cytoskeleton 1 Publication
Other locations
- axon By similarity
Cytoskeleton
- cytoskeleton Source: ARUK-UCL
- neurofilament Source: UniProtKB
- postsynaptic intermediate filament cytoskeleton Source: Ensembl
Other locations
- axon Source: UniProtKB
- cytoplasm Source: UniProtKB
- neurofibrillary tangle Source: BHF-UCL
- postsynaptic density Source: Ensembl
- Schaffer collateral - CA1 synapse Source: Ensembl
Keywords - Cellular componenti
Cell projection, Cytoplasm, Cytoskeleton, Intermediate filamentPathology & Biotechi
Involvement in diseasei
Amyotrophic lateral sclerosis (ALS)1 Publication
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023063 | 796 | Missing in ALS. 1 Publication | 1 |
Charcot-Marie-Tooth disease 2CC (CMT2CC)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Related information in OMIMKeywords - Diseasei
Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Disease variant, Neurodegeneration, NeuropathyOrganism-specific databases
DisGeNETi | 4744 |
GeneReviewsi | NEFH |
MalaCardsi | NEFH |
MIMi | 105400, phenotype 616924, phenotype |
Orphaneti | 803, Amyotrophic lateral sclerosis |
PharmGKBi | PA31540 |
Miscellaneous databases
Pharosi | P12036, Tbio |
Genetic variation databases
BioMutai | NEFH |
DMDMi | 226726294 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000063800 | 1 – 1026 | Neurofilament heavy polypeptideAdd BLAST | 1026 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 76 | PhosphoserineBy similarity | 1 | |
Modified residuei | 124 | PhosphoserineBy similarity | 1 | |
Modified residuei | 347 | PhosphoserineBy similarity | 1 | |
Modified residuei | 421 | PhosphoserineBy similarity | 1 | |
Modified residuei | 511 | PhosphoserineBy similarity | 1 | |
Modified residuei | 526 | PhosphoserineBy similarity | 1 | |
Modified residuei | 532 | PhosphoserineBy similarity | 1 | |
Modified residuei | 540 | PhosphoserineCombined sources | 1 | |
Modified residuei | 546 | PhosphoserineBy similarity | 1 | |
Modified residuei | 552 | PhosphoserineBy similarity | 1 | |
Modified residuei | 560 | PhosphoserineBy similarity | 1 | |
Modified residuei | 566 | PhosphoserineBy similarity | 1 | |
Modified residuei | 574 | PhosphoserineCombined sources | 1 | |
Modified residuei | 580 | PhosphoserineBy similarity | 1 | |
Modified residuei | 586 | PhosphoserineBy similarity | 1 | |
Modified residuei | 594 | PhosphoserineBy similarity | 1 | |
Modified residuei | 600 | PhosphoserineBy similarity | 1 | |
Modified residuei | 606 | PhosphoserineBy similarity | 1 | |
Modified residuei | 614 | PhosphoserineBy similarity | 1 | |
Modified residuei | 620 | PhosphoserineBy similarity | 1 | |
Modified residuei | 628 | PhosphoserineCombined sources | 1 | |
Modified residuei | 634 | PhosphoserineBy similarity | 1 | |
Modified residuei | 640 | PhosphoserineBy similarity | 1 | |
Modified residuei | 648 | PhosphoserineBy similarity | 1 | |
Modified residuei | 654 | PhosphoserineBy similarity | 1 | |
Modified residuei | 660 | PhosphoserineBy similarity | 1 | |
Modified residuei | 668 | PhosphoserineBy similarity | 1 | |
Modified residuei | 674 | PhosphoserineCombined sources | 1 | |
Modified residuei | 682 | PhosphoserineBy similarity | 1 | |
Modified residuei | 688 | PhosphoserineCombined sources | 1 | |
Modified residuei | 696 | PhosphoserineBy similarity | 1 | |
Modified residuei | 702 | PhosphoserineBy similarity | 1 | |
Modified residuei | 710 | PhosphoserineBy similarity | 1 | |
Modified residuei | 724 | PhosphoserineBy similarity | 1 | |
Modified residuei | 730 | PhosphoserineBy similarity | 1 | |
Modified residuei | 744 | PhosphoserineBy similarity | 1 | |
Modified residuei | 758 | PhosphoserineBy similarity | 1 | |
Modified residuei | 769 | PhosphoserineBy similarity | 1 | |
Modified residuei | 774 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 793 | PhosphoserineBy similarity | 1 | |
Modified residuei | 801 | PhosphoserineBy similarity | 1 | |
Modified residuei | 828 | PhosphoserineBy similarity | 1 | |
Modified residuei | 894 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.1 Publication
Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.1 Publication
Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.1 Publication
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P12036 |
jPOSTi | P12036 |
MassIVEi | P12036 |
MaxQBi | P12036 |
PaxDbi | P12036 |
PeptideAtlasi | P12036 |
PRIDEi | P12036 |
ProteomicsDBi | 52821 [P12036-1] 52822 [P12036-2] |
2D gel databases
UCD-2DPAGEi | P12036 |
PTM databases
CarbonylDBi | P12036 |
iPTMneti | P12036 |
PhosphoSitePlusi | P12036 |
SwissPalmi | P12036 |
Expressioni
Gene expression databases
Bgeei | ENSG00000100285, Expressed in dorsal root ganglion and 193 other tissues |
Genevisiblei | P12036, HS |
Organism-specific databases
HPAi | ENSG00000100285, Group enriched (brain, prostate) |
Interactioni
Subunit structurei
Forms heterodimers with NEFL; which can further hetero-oligomerize (in vitro) (By similarity). Forms heterodimers with INA (in vitro) (By similarity).
By similarityBinary interactionsi
Hide detailsGO - Molecular functioni
- kinesin binding Source: BHF-UCL
- microtubule binding Source: BHF-UCL
- protein kinase binding Source: ARUK-UCL
Protein-protein interaction databases
BioGRIDi | 110819, 29 interactors |
IntActi | P12036, 32 interactors |
MINTi | P12036 |
STRINGi | 9606.ENSP00000311997 |
Miscellaneous databases
RNActi | P12036, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 97 – 413 | IF rodPROSITE-ProRule annotationAdd BLAST | 317 | |
Repeati | 525 – 530 | 1 | 6 | |
Repeati | 531 – 536 | 2 | 6 | |
Repeati | 539 – 544 | 3 | 6 | |
Repeati | 545 – 550 | 4 | 6 | |
Repeati | 559 – 564 | 5 | 6 | |
Repeati | 573 – 578 | 6 | 6 | |
Repeati | 579 – 584 | 7 | 6 | |
Repeati | 593 – 598 | 8 | 6 | |
Repeati | 599 – 604 | 9 | 6 | |
Repeati | 613 – 618 | 10 | 6 | |
Repeati | 627 – 632 | 11 | 6 | |
Repeati | 633 – 638 | 12 | 6 | |
Repeati | 647 – 652 | 13 | 6 | |
Repeati | 653 – 658 | 14 | 6 | |
Repeati | 667 – 672 | 15 | 6 | |
Repeati | 673 – 678 | 16 | 6 | |
Repeati | 681 – 686 | 17 | 6 | |
Repeati | 687 – 692 | 18 | 6 | |
Repeati | 695 – 700 | 19 | 6 | |
Repeati | 701 – 706 | 20 | 6 | |
Repeati | 709 – 714 | 21 | 6 | |
Repeati | 715 – 720 | 22 | 6 | |
Repeati | 723 – 728 | 23 | 6 | |
Repeati | 729 – 734 | 24 | 6 | |
Repeati | 743 – 748 | 25 | 6 | |
Repeati | 751 – 756 | 26 | 6 | |
Repeati | 768 – 773 | 27 | 6 | |
Repeati | 792 – 797 | 28 | 6 | |
Repeati | 800 – 805 | 29 | 6 | |
Repeati | 827 – 832 | 30 | 6 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 100 | HeadAdd BLAST | 100 | |
Regioni | 101 – 132 | Coil 1AAdd BLAST | 32 | |
Regioni | 133 – 145 | Linker 1Add BLAST | 13 | |
Regioni | 146 – 244 | Coil 1BAdd BLAST | 99 | |
Regioni | 245 – 266 | Linker 12Add BLAST | 22 | |
Regioni | 267 – 288 | Coil 2AAdd BLAST | 22 | |
Regioni | 289 – 292 | Linker 2 | 4 | |
Regioni | 293 – 413 | Coil 2BAdd BLAST | 121 | |
Regioni | 414 – 1026 | TailAdd BLAST | 613 | |
Regioni | 525 – 832 | 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]-[AEVK]Add BLAST | 308 |
Sequence similaritiesi
Belongs to the intermediate filament family.PROSITE-ProRule annotation
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | ENOG502QYDU, Eukaryota |
HOGENOMi | CLU_012560_7_2_1 |
InParanoidi | P12036 |
OrthoDBi | 898483at2759 |
PhylomeDBi | P12036 |
TreeFami | TF330122 |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR010790, DUF1388 IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR033183, NF-H |
PANTHERi | PTHR23214, PTHR23214, 2 hits |
Pfami | View protein in Pfam PF07142, DUF1388, 10 hits PF00038, Filament, 1 hit |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: P12036-1) [UniParc]FASTAAdd to basket
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
MMSFGGADAL LGAPFAPLHG GGSLHYALAR KGGAGGTRSA AGSSSGFHSW
60 70 80 90 100
TRTSVSSVSA SPSRFRGAGA ASSTDSLDTL SNGPEGCMVA VATSRSEKEQ
110 120 130 140 150
LQALNDRFAG YIDKVRQLEA HNRSLEGEAA ALRQQQAGRS AMGELYEREV
160 170 180 190 200
REMRGAVLRL GAARGQLRLE QEHLLEDIAH VRQRLDDEAR QREEAEAAAR
210 220 230 240 250
ALARFAQEAE AARVDLQKKA QALQEECGYL RRHHQEEVGE LLGQIQGSGA
260 270 280 290 300
AQAQMQAETR DALKCDVTSA LREIRAQLEG HAVQSTLQSE EWFRVRLDRL
310 320 330 340 350
SEAAKVNTDA MRSAQEEITE YRRQLQARTT ELEALKSTKD SLERQRSELE
360 370 380 390 400
DRHQADIASY QEAIQQLDAE LRNTKWEMAA QLREYQDLLN VKMALDIEIA
410 420 430 440 450
AYRKLLEGEE CRIGFGPIPF SLPEGLPKIP SVSTHIKVKS EEKIKVVEKS
460 470 480 490 500
EKETVIVEEQ TEETQVTEEV TEEEEKEAKE EEGKEEEGGE EEEAEGGEEE
510 520 530 540 550
TKSPPAEEAA SPEKEAKSPV KEEAKSPAEA KSPEKEEAKS PAEVKSPEKA
560 570 580 590 600
KSPAKEEAKS PPEAKSPEKE EAKSPAEVKS PEKAKSPAKE EAKSPAEAKS
610 620 630 640 650
PEKAKSPVKE EAKSPAEAKS PVKEEAKSPA EVKSPEKAKS PTKEEAKSPE
660 670 680 690 700
KAKSPEKAKS PEKEEAKSPE KAKSPVKAEA KSPEKAKSPV KAEAKSPEKA
710 720 730 740 750
KSPVKEEAKS PEKAKSPVKE EAKSPEKAKS PVKEEAKTPE KAKSPVKEEA
760 770 780 790 800
KSPEKAKSPE KAKTLDVKSP EAKTPAKEEA RSPADKFPEK AKSPVKEEVK
810 820 830 840 850
SPEKAKSPLK EDAKAPEKEI PKKEEVKSPV KEEEKPQEVK VKEPPKKAEE
860 870 880 890 900
EKAPATPKTE EKKDSKKEEA PKKEAPKPKV EEKKEPAVEK PKESKVEAKK
910 920 930 940 950
EEAEDKKKVP TPEKEAPAKV EVKEDAKPKE KTEVAKKEPD DAKAKEPSKP
960 970 980 990 1000
AEKKEAAPEK KDTKEEKAKK PEEKPKTEAK AKEDDKTLSK EPSKPKAEKA
1010 1020
EKSSSTDQKD SKPPEKATED KAAKGK
Sequence cautioni
The sequence BAA74868 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAG63896 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 647 – 652 | Missing in CAA33366 (PubMed:3138108).Curated | 6 | |
Sequence conflicti | 647 – 652 | Missing in AC000035 (PubMed:10591208).Curated | 6 |
Polymorphismi
The number of repeats is shown to vary between 29 and 30.
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054787 | 575 | P → S. Corresponds to variant dbSNP:rs6006164EnsemblClinVar. | 1 | |
Natural variantiVAR_056025 | 615 | P → L. Corresponds to variant dbSNP:rs5763269EnsemblClinVar. | 1 | |
Natural variantiVAR_023063 | 796 | Missing in ALS. 1 Publication | 1 | |
Natural variantiVAR_026163 | 811 | E → A1 PublicationCorresponds to variant dbSNP:rs165602Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036706 | 750 – 812 | Missing in isoform 2. 1 PublicationAdd BLAST | 63 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X15306 , X15307, X15308, X15309 Genomic DNA Translation: CAA33366.1 AF203032 mRNA Translation: AAF13722.1 AB020652 mRNA Translation: BAA74868.2 Different initiation. AK302660 mRNA Translation: BAG63896.1 Different initiation. AC000035 Genomic DNA No translation available. BC008648 mRNA Translation: AAH08648.1 BC073969 mRNA Translation: AAH73969.1 |
PIRi | S00979, QFHUH |
RefSeqi | NP_066554.2, NM_021076.3 |
Genome annotation databases
Ensembli | ENST00000310624; ENSP00000311997; ENSG00000100285 |
GeneIDi | 4744 |
KEGGi | hsa:4744 |
UCSCi | uc003afo.4, human [P12036-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Human Intermediate Filament Mutation Database |
Alsod ALS genetic mutations db |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X15306 , X15307, X15308, X15309 Genomic DNA Translation: CAA33366.1 AF203032 mRNA Translation: AAF13722.1 AB020652 mRNA Translation: BAA74868.2 Different initiation. AK302660 mRNA Translation: BAG63896.1 Different initiation. AC000035 Genomic DNA No translation available. BC008648 mRNA Translation: AAH08648.1 BC073969 mRNA Translation: AAH73969.1 |
PIRi | S00979, QFHUH |
RefSeqi | NP_066554.2, NM_021076.3 |
3D structure databases
SMRi | P12036 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110819, 29 interactors |
IntActi | P12036, 32 interactors |
MINTi | P12036 |
STRINGi | 9606.ENSP00000311997 |
PTM databases
CarbonylDBi | P12036 |
iPTMneti | P12036 |
PhosphoSitePlusi | P12036 |
SwissPalmi | P12036 |
Genetic variation databases
BioMutai | NEFH |
DMDMi | 226726294 |
2D gel databases
UCD-2DPAGEi | P12036 |
Proteomic databases
EPDi | P12036 |
jPOSTi | P12036 |
MassIVEi | P12036 |
MaxQBi | P12036 |
PaxDbi | P12036 |
PeptideAtlasi | P12036 |
PRIDEi | P12036 |
ProteomicsDBi | 52821 [P12036-1] 52822 [P12036-2] |
Protocols and materials databases
Antibodypediai | 3579, 1650 antibodies |
Genome annotation databases
Ensembli | ENST00000310624; ENSP00000311997; ENSG00000100285 |
GeneIDi | 4744 |
KEGGi | hsa:4744 |
UCSCi | uc003afo.4, human [P12036-1] |
Organism-specific databases
CTDi | 4744 |
DisGeNETi | 4744 |
GeneCardsi | NEFH |
GeneReviewsi | NEFH |
HGNCi | HGNC:7737, NEFH |
HPAi | ENSG00000100285, Group enriched (brain, prostate) |
MalaCardsi | NEFH |
MIMi | 105400, phenotype 162230, gene 616924, phenotype |
neXtProti | NX_P12036 |
Orphaneti | 803, Amyotrophic lateral sclerosis |
PharmGKBi | PA31540 |
VEuPathDBi | HostDB:ENSG00000100285.9 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QYDU, Eukaryota |
HOGENOMi | CLU_012560_7_2_1 |
InParanoidi | P12036 |
OrthoDBi | 898483at2759 |
PhylomeDBi | P12036 |
TreeFami | TF330122 |
Enzyme and pathway databases
PathwayCommonsi | P12036 |
SIGNORi | P12036 |
Miscellaneous databases
BioGRID-ORCSi | 4744, 4 hits in 874 CRISPR screens |
ChiTaRSi | NEFH, human |
GenomeRNAii | 4744 |
Pharosi | P12036, Tbio |
PROi | PR:P12036 |
RNActi | P12036, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100285, Expressed in dorsal root ganglion and 193 other tissues |
Genevisiblei | P12036, HS |
Family and domain databases
Gene3Di | 1.20.5.1160, 1 hit |
InterProi | View protein in InterPro IPR010790, DUF1388 IPR018039, IF_conserved IPR039008, IF_rod_dom IPR042180, IF_rod_dom_coil1B IPR033183, NF-H |
PANTHERi | PTHR23214, PTHR23214, 2 hits |
Pfami | View protein in Pfam PF07142, DUF1388, 10 hits PF00038, Filament, 1 hit |
SMARTi | View protein in SMART SM01391, Filament, 1 hit |
PROSITEi | View protein in PROSITE PS00226, IF_ROD_1, 1 hit PS51842, IF_ROD_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NFH_HUMAN | |
Accessioni | P12036Primary (citable) accession number: P12036 Secondary accession number(s): B4DYY4 Q9UQ14 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1989 |
Last sequence update: | March 24, 2009 | |
Last modified: | February 10, 2021 | |
This is version 199 of the entry and version 4 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
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: 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 - SIMILARITY comments
Index of protein domains and families