Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 119 (07 Oct 2020)
Sequence version 1 (07 Nov 2003)
Previous versions | rss
Add a publicationFeedback
Protein

Keratin-associated protein 12-2

Gene

KRTAP12-2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P59991

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6805567, Keratinization

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Keratin-associated protein 12-2
Alternative name(s):
High sulfur keratin-associated protein 12.2
Keratin-associated protein 12.2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KRTAP12-2
Synonyms:KAP12.2, KRTAP12.2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 21

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000221864.4

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20530, KRTAP12-2

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P59991

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Keratin

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000221864

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134993440

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P59991, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KRTAP12-2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
38257914

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001851971 – 146Keratin-associated protein 12-2Add BLAST146

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P59991

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P59991

PeptideAtlas

More...
PeptideAtlasi
P59991

PRoteomics IDEntifications database

More...
PRIDEi
P59991

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
57175

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000221864, Expressed in heart and 17 other tissues

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000221864, Tissue enriched (skin)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with hair keratins.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

P59991
With#Exp.IntAct
ADAM12 - isoform 4 [O43184-4]3EBI-10176379,EBI-12006944
ARID5A [Q03989]5EBI-10176379,EBI-948603
ATN1 [Q86V38]3EBI-10176379,EBI-11954292
ATP6V1C2 - isoform 2 [Q8NEY4-2]3EBI-10176379,EBI-10270867
AVPI1 [Q5T686]4EBI-10176379,EBI-8640233
BCL6B [A8KA13]3EBI-10176379,EBI-10174813
BEX2 [Q9BXY8]3EBI-10176379,EBI-745073
CATSPER1 [Q8NEC5]3EBI-10176379,EBI-744545
CBLL2 [Q8N7E2]3EBI-10176379,EBI-12196065
CBX2 - isoform 2 [Q14781-2]3EBI-10176379,EBI-11974585
CCNL1 [Q9UK58]3EBI-10176379,EBI-2836773
CCNL2 - isoform 5 [Q96S94-5]3EBI-10176379,EBI-12024864
CFP [P27918]3EBI-10176379,EBI-9038570
CHRD [Q9H2X0]3EBI-10176379,EBI-947551
CNNM3 [Q8NE01]3EBI-10176379,EBI-741032
CYSRT1 [A8MQ03]3EBI-10176379,EBI-3867333
DGCR6 [Q14129]3EBI-10176379,EBI-12206931
DHRS1 [Q96LJ7]3EBI-10176379,EBI-746300
EFEMP2 [O95967]3EBI-10176379,EBI-743414
ETNK2 [Q9NVF9]3EBI-10176379,EBI-751864
FAM27E3 [Q08E93]3EBI-10176379,EBI-2602739
FHL3 [Q13643]6EBI-10176379,EBI-741101
FOXD4 [Q12950]3EBI-10176379,EBI-11317801
FOXD4L1 [Q9NU39]3EBI-10176379,EBI-11320806
FOXD4L3 [Q6VB84]3EBI-10176379,EBI-11961494
GDF15 [Q99988]3EBI-10176379,EBI-2116863
GPANK1 [O95872]3EBI-10176379,EBI-751540
GREM1 [O60565]3EBI-10176379,EBI-944395
hCG_2003792 [A0A024R5S0]3EBI-10176379,EBI-10188461
HOXA1 [P49639]3EBI-10176379,EBI-740785
HOXB9 [P17482]3EBI-10176379,EBI-745290
HSFX2 [Q9UBD0]3EBI-10176379,EBI-947253
INO80B [Q9C086]3EBI-10176379,EBI-715611
IQUB [Q8NA54]3EBI-10176379,EBI-10220600
KRT34 [O76011]3EBI-10176379,EBI-1047093
KRTAP10-5 [P60370]3EBI-10176379,EBI-10172150
KRTAP10-8 [P60410]3EBI-10176379,EBI-10171774
KRTAP12-1 [P59990]4EBI-10176379,EBI-10210845
KRTAP12-4 [P60329]3EBI-10176379,EBI-10176396
KRTAP13-2 [Q52LG2]3EBI-10176379,EBI-11953846
KRTAP15-1 [Q3LI76]3EBI-10176379,EBI-11992140
KRTAP19-2 [Q3LHN2]3EBI-10176379,EBI-12196745
KRTAP21-2 [Q3LI59]3EBI-10176379,EBI-18395721
KRTAP26-1 [Q6PEX3]6EBI-10176379,EBI-3957672
KRTAP3-2 [Q9BYR7]3EBI-10176379,EBI-751260
KRTAP4-2 [Q9BYR5]3EBI-10176379,EBI-10172511
KRTAP5-9 [P26371]6EBI-10176379,EBI-3958099
KRTAP6-2 [Q3LI66]6EBI-10176379,EBI-11962084
KRTAP9-3 [Q9BYQ3]3EBI-10176379,EBI-1043191
KRTAP9-8 [Q9BYQ0]3EBI-10176379,EBI-11958364
LCE1A [Q5T7P2]3EBI-10176379,EBI-11962058
LCE1C [Q5T751]3EBI-10176379,EBI-12224199
LCE1F [Q5T754]3EBI-10176379,EBI-11958008
LCE2A [Q5TA79]3EBI-10176379,EBI-10246607
LCE2B [O14633]3EBI-10176379,EBI-11478468
LCE4A [Q5TA78]3EBI-10176379,EBI-10246358
MEOX2 [Q6FHY5]3EBI-10176379,EBI-16439278
MYOZ1 [Q9NP98]3EBI-10176379,EBI-744402
MYPOP [Q86VE0]3EBI-10176379,EBI-2858213
NECTIN2 - isoform Alpha [Q92692-2]3EBI-10176379,EBI-6979889
NOTCH2NLA [Q7Z3S9]3EBI-10176379,EBI-945833
NOTCH2NLC [P0DPK4]3EBI-10176379,EBI-22310682
NPDC1 [Q9NQX5]3EBI-10176379,EBI-748927
NR1D2 [Q6NSM0]3EBI-10176379,EBI-10250949
ODF1 [Q14990]3EBI-10176379,EBI-10234557
OTX1 [P32242]6EBI-10176379,EBI-740446
PACSIN3 [Q9UKS6]3EBI-10176379,EBI-77926
PATZ1 - isoform 4 [Q9HBE1-4]3EBI-10176379,EBI-11022007
PCSK5 - isoform PC6A [Q92824-2]3EBI-10176379,EBI-11956269
PDE9A - isoform PDE9A2 [O76083-2]3EBI-10176379,EBI-11524542
PELO [Q9BRX2]3EBI-10176379,EBI-1043580
PHLDA1 [A2BDE7]3EBI-10176379,EBI-14084211
PIH1D2 [Q8WWB5]3EBI-10176379,EBI-10232538
POLR1C [O15160]3EBI-10176379,EBI-1055079
POU4F2 [Q12837]3EBI-10176379,EBI-17236143
RAD23A [P54725]3EBI-10176379,EBI-746453
RBM39 [Q14498]3EBI-10176379,EBI-395290
RBPMS [Q93062]3EBI-10176379,EBI-740322
RBX1 [P62877]3EBI-10176379,EBI-398523
RHOXF2 [Q9BQY4]3EBI-10176379,EBI-372094
SEMA3B - isoform 2 [Q13214-2]3EBI-10176379,EBI-11017428
SLC12A4 [Q9UP95]3EBI-10176379,EBI-7244836
SLC13A5 [Q86YT5]3EBI-10176379,EBI-12002412
SLC15A2 [Q16348]3EBI-10176379,EBI-12806032
SLC15A3 [Q8IY34]4EBI-10176379,EBI-12179023
SPATA3 [A0A024R4B0]3EBI-10176379,EBI-14123856
SPRED2 [Q7Z698]3EBI-10176379,EBI-7082156
SPRY1 [O43609]3EBI-10176379,EBI-3866665
SRSF8 - isoform 2 [Q9BRL6-2]3EBI-10176379,EBI-10976394
TCEA2 [Q15560]3EBI-10176379,EBI-710310
TEX37 [Q96LM6]3EBI-10176379,EBI-743976
TINAGL1 [Q9GZM7]3EBI-10176379,EBI-715869
TINAGL1 - isoform 3 [Q9GZM7-3]3EBI-10176379,EBI-10303636
TLE5 - isoform 2 [Q08117-2]3EBI-10176379,EBI-11741437
TMEM179B [Q7Z7N9]3EBI-10176379,EBI-11724423
TNS2 [Q63HR2]6EBI-10176379,EBI-949753
TRIM42 [Q8IWZ5]3EBI-10176379,EBI-5235829
TRIP13 [Q15645]3EBI-10176379,EBI-358993
TSGA10IP [Q3SY00]3EBI-10176379,EBI-10241197
TTPA [P49638]3EBI-10176379,EBI-10210710
VASN [Q6EMK4]3EBI-10176379,EBI-10249550
VENTX [O95231]6EBI-10176379,EBI-10191303
VGLL3 - isoform 2 [A8MV65-2]3EBI-10176379,EBI-11957216
YIPF3 [Q9GZM5]3EBI-10176379,EBI-743787
YY1 [P25490]3EBI-10176379,EBI-765538
ZBTB9 [Q96C00]6EBI-10176379,EBI-395708
ZDHHC1 [Q8WTX9]3EBI-10176379,EBI-2818796
ZIM2 [Q9NZV7]3EBI-10176379,EBI-11962760
ZNF100 [Q8IYN0]3EBI-10176379,EBI-2849363
ZNF408 [Q9H9D4]3EBI-10176379,EBI-347633
ZNF497 [Q6ZNH5]3EBI-10176379,EBI-10486136
ZNF581 [Q9P0T4]3EBI-10176379,EBI-745520
ZNF587 [Q96SQ5]3EBI-10176379,EBI-6427977
ZNF624 [Q9P2J8]3EBI-10176379,EBI-9116427
ZNF688 [A0A0S2Z5X4]3EBI-10176379,EBI-16429014
ZNF696 [Q9H7X3]3EBI-10176379,EBI-11090299
ZNF764 [Q96H86]3EBI-10176379,EBI-745775
ZNF785 [A8K8V0]3EBI-10176379,EBI-3925400
ZNHIT1 [O43257]3EBI-10176379,EBI-347522
Q5BKY63EBI-10176379,EBI-10243533
Q96EJ43EBI-10176379,EBI-750454

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
131684, 126 interactors

Protein interaction database and analysis system

More...
IntActi
P59991, 120 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000354001

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P59991, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati10 – 1415
Repeati15 – 1925
Repeati20 – 2435
Repeati25 – 2945
Repeati34 – 3855
Repeati40 – 4465
Repeati45 – 4975
Repeati55 – 5985
Repeati60 – 6495
Repeati65 – 69105
Repeati70 – 74115
Repeati75 – 79125
Repeati80 – 84135
Repeati85 – 89145
Repeati90 – 94155
Repeati95 – 99165
Repeati100 – 104175
Repeati105 – 109185
Repeati110 – 114195
Repeati120 – 124205
Repeati125 – 129215
Repeati130 – 134225
Repeati135 – 139235

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni10 – 13923 X 5 AA approximate repeatsAdd BLAST130

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the KRTAP type 12 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4726, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000163527

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_138013_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P59991

Identification of Orthologs from Complete Genome Data

More...
OMAi
PRCTTIC

Database of Orthologous Groups

More...
OrthoDBi
1616617at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P59991

TreeFam database of animal gene trees

More...
TreeFami
TF339135

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002494, KAP
IPR007951, KRTAP_PMG

The PANTHER Classification System

More...
PANTHERi
PTHR23262, PTHR23262, 2 hits

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05287, PMG, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

P59991-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MCHTSCSSGC QPACCAPSPC QPACCVPSSC QASCCVPVGC QSSVCVPVSF
60 70 80 90 100
KPAVCLPVSC QSSVCVPMSF KSAVCVPVSC QSSVCVPVSC RPIVCAAPSC
110 120 130 140
QSSLCVPVSC RPVVYAAPSC QSSGCCQPSC TSVLCRPISY SISSCC
Length:146
Mass (Da):14,689
Last modified:November 7, 2003 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7183BF01D2D7D069
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06005716A → T. Corresponds to variant dbSNP:rs13046903Ensembl.1
Natural variantiVAR_06005816A → V. Corresponds to variant dbSNP:rs7275298Ensembl.1
Natural variantiVAR_06005929S → C. Corresponds to variant dbSNP:rs7275281Ensembl.1
Natural variantiVAR_06211529S → P. Corresponds to variant dbSNP:rs7276859Ensembl.1
Natural variantiVAR_053468116A → V. Corresponds to variant dbSNP:rs12483730Ensembl.1
Natural variantiVAR_053469143S → P. Corresponds to variant dbSNP:rs2838622Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB076362 mRNA Translation: BAD01549.1
AJ566389 mRNA Translation: CAD97469.1
AL773602 Genomic DNA No translation available.
BC120941 mRNA Translation: AAI20942.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS42965.1

NCBI Reference Sequences

More...
RefSeqi
NP_859012.1, NM_181684.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000360770; ENSP00000354001; ENSG00000221864

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
353323

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:353323

UCSC genome browser

More...
UCSCi
uc002zfu.3, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB076362 mRNA Translation: BAD01549.1
AJ566389 mRNA Translation: CAD97469.1
AL773602 Genomic DNA No translation available.
BC120941 mRNA Translation: AAI20942.1
CCDSiCCDS42965.1
RefSeqiNP_859012.1, NM_181684.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi131684, 126 interactors
IntActiP59991, 120 interactors
STRINGi9606.ENSP00000354001

Polymorphism and mutation databases

BioMutaiKRTAP12-2
DMDMi38257914

Proteomic databases

MassIVEiP59991
PaxDbiP59991
PeptideAtlasiP59991
PRIDEiP59991
ProteomicsDBi57175

Genome annotation databases

EnsembliENST00000360770; ENSP00000354001; ENSG00000221864
GeneIDi353323
KEGGihsa:353323
UCSCiuc002zfu.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
353323
EuPathDBiHostDB:ENSG00000221864.4

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KRTAP12-2
HGNCiHGNC:20530, KRTAP12-2
HPAiENSG00000221864, Tissue enriched (skin)
neXtProtiNX_P59991
OpenTargetsiENSG00000221864
PharmGKBiPA134993440

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4726, Eukaryota
GeneTreeiENSGT00940000163527
HOGENOMiCLU_138013_0_0_1
InParanoidiP59991
OMAiPRCTTIC
OrthoDBi1616617at2759
PhylomeDBiP59991
TreeFamiTF339135

Enzyme and pathway databases

PathwayCommonsiP59991
ReactomeiR-HSA-6805567, Keratinization

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
353323, 3 hits in 863 CRISPR screens

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
353323
PharosiP59991, Tdark

Protein Ontology

More...
PROi
PR:P59991
RNActiP59991, protein

Gene expression databases

BgeeiENSG00000221864, Expressed in heart and 17 other tissues

Family and domain databases

InterProiView protein in InterPro
IPR002494, KAP
IPR007951, KRTAP_PMG
PANTHERiPTHR23262, PTHR23262, 2 hits
PfamiView protein in Pfam
PF05287, PMG, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKR122_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P59991
Secondary accession number(s): A6NIS1, A6NMS9, Q0VAS4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: November 7, 2003
Last modified: October 7, 2020
This is version 119 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again