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Q15323 (K1H1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Keratin, type I cuticular Ha1
Alternative name(s):
Hair keratin, type I Ha1
Keratin-31
Short name=K31
Gene names
Name:KRT31
Synonyms:HHA1, HKA1, KRTHA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length416 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Tissue specificity

Present in scalp but not in hairless skin. Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Ref.3 Ref.6

Miscellaneous

There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

Sequence similarities

Belongs to the intermediate filament family.

Ontologies

Keywords
   Cellular componentIntermediate filament
Keratin
   Coding sequence diversityPolymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processepidermis development

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentextracellular space

Inferred from direct assay PubMed 23580065. Source: UniProt

intermediate filament

Traceable author statement PubMed 9405442. Source: ProtInc

   Molecular_functionstructural constituent of cytoskeleton

Traceable author statement PubMed 9405442. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 416416Keratin, type I cuticular Ha1
PRO_0000063684

Regions

Region1 – 5656Head
Region57 – 363307Rod
Region57 – 9135Coil 1A
Region92 – 10211Linker 1
Region103 – 203101Coil 1B
Region204 – 21916Linker 12
Region220 – 363144Coil 2
Region364 – 41653Tail

Sites

Site3051Stutter

Natural variations

Natural variant391A → G.
Corresponds to variant rs6503628 [ dbSNP | Ensembl ].
VAR_046989
Natural variant821A → V.
Corresponds to variant rs6503627 [ dbSNP | Ensembl ].
VAR_046990
Natural variant3771A → V.
Corresponds to variant rs34293483 [ dbSNP | Ensembl ].
VAR_046991

Experimental info

Sequence conflict153 – 1542QL → HV in CAA60378. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q15323 [UniParc].

Last modified October 14, 2008. Version 3.
Checksum: C284DD33A4896009

FASTA41647,237
        10         20         30         40         50         60 
MPYNFCLPSL SCRTSCSSRP CVPPSCHSCT LPGACNIPAN VSNCNWFCEG SFNGSEKETM 

        70         80         90        100        110        120 
QFLNDRLASY LEKVRQLERD NAELENLIRE RSQQQEPLLC PSYQSYFKTI EELQQKILCT 

       130        140        150        160        170        180 
KSENARLVVQ IDNAKLAADD FRTKYQTELS LRQLVESDIN GLRRILDELT LCKSDLEAQV 

       190        200        210        220        230        240 
ESLKEELLCL KSNHEQEVNT LRCQLGDRLN VEVDAAPTVD LNRVLNETRS QYEALVETNR 

       250        260        270        280        290        300 
REVEQWFTTQ TEELNKQVVS SSEQLQSYQA EIIELRRTVN ALEIELQAQH NLRDSLENTL 

       310        320        330        340        350        360 
TESEARYSSQ LSQVQSLITN VESQLAEIRS DLERQNQEYQ VLLDVRARLE CEINTYRSLL 

       370        380        390        400        410 
ESEDCNLPSN PCATTNACSK PIGPCLSNPC TSCVPPAPCT PCAPRPRCGP CNSFVR 

« Hide

References

« Hide 'large scale' references
[1]"A cDNA encoding the human type I hair keratin hHal."
Fink P., Rogers M.A., Krieg T., Winter H., Schweizer J.
Biochim. Biophys. Acta 1264:12-14(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Hair.
[2]Rogers M.A.
Submitted (MAR-1998) to the EMBL/GenBank/DDBJ databases
Cited for: SEQUENCE REVISION.
[3]"Characterization of a 190-kilobase pair domain of human type I hair keratin genes."
Rogers M.A., Winter H., Wolf C., Heck M., Schweizer J.
J. Biol. Chem. 273:26683-26691(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY.
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]"Characterization and chromosomal localization of human hair-specific keratin genes and comparative expression during the hair growth cycle."
Bowden P.E., Hainey S.D., Parker G., Jones D.O., Zimonjic D., Popescu N., Hodgins M.B.
J. Invest. Dermatol. 110:158-164(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X86570 mRNA. Translation: CAA60378.1.
Y16787 Genomic DNA. Translation: CAA76383.1.
CH471152 Genomic DNA. Translation: EAW60730.1.
BC114468 mRNA. Translation: AAI14469.1.
CCDSCCDS11391.1.
PIRS60034.
RefSeqNP_002268.2. NM_002277.2.
UniGeneHs.41696.

3D structure databases

ProteinModelPortalQ15323.
SMRQ15323. Positions 106-204, 274-361.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110079. 18 interactions.
IntActQ15323. 9 interactions.
MINTMINT-2860287.
STRING9606.ENSP00000251645.

PTM databases

PhosphoSiteQ15323.

Polymorphism databases

DMDM209572740.

Proteomic databases

MaxQBQ15323.
PaxDbQ15323.
PRIDEQ15323.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000251645; ENSP00000251645; ENSG00000094796.
ENST00000573281; ENSP00000460739; ENSG00000262993.
GeneID3881.
KEGGhsa:3881.
UCSCuc002hwn.3. human.

Organism-specific databases

CTD3881.
GeneCardsGC17M039549.
H-InvDBHIX0039252.
HGNCHGNC:6448. KRT31.
HPAHPA049550.
MIM601077. gene.
neXtProtNX_Q15323.
PharmGKBPA30237.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG321598.
HOGENOMHOG000230975.
HOVERGENHBG013015.
InParanoidQ15323.
KOK07604.
OMATKYHTEL.
OrthoDBEOG7FV3Q8.
PhylomeDBQ15323.
TreeFamTF332742.

Gene expression databases

ArrayExpressQ15323.
BgeeQ15323.
CleanExHS_KRT31.
GenevestigatorQ15323.

Family and domain databases

InterProIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01248. TYPE1KERATIN.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKRT31.
GenomeRNAi3881.
NextBio15235.
PROQ15323.
SOURCESearch...

Entry information

Entry nameK1H1_HUMAN
AccessionPrimary (citable) accession number: Q15323
Secondary accession number(s): Q9UE12
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: October 14, 2008
Last modified: July 9, 2014
This is version 112 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM