Q15323 (K1H1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	416 AA.
Sequence status	Complete.
Protein existence	Evidence 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 component	Intermediate filament Keratin
Coding sequence diversity	Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	epidermis development Traceable author statement Ref.1. Source: ProtInc
Cellular_component	intermediate filament Traceable author statement PubMed 9405442. Source: ProtInc
Molecular_function	structural constituent of cytoskeleton Traceable author statement PubMed 9405442. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 416	416	Keratin, type I cuticular Ha1		PRO_0000063684
Regions
	Region	1 – 56	56	Head
	Region	57 – 363	307	Rod
	Region	57 – 91	35	Coil 1A
	Region	92 – 102	11	Linker 1
	Region	103 – 203	101	Coil 1B
	Region	204 – 219	16	Linker 12
	Region	220 – 363	144	Coil 2
	Region	364 – 416	53	Tail
Sites
	Site	305	1	Stutter
Natural variations
	Natural variant	39	1	A → G. Corresponds to variant rs6503628 [ dbSNP | Ensembl ].		VAR_046989
	Natural variant	82	1	A → V. Corresponds to variant rs6503627 [ dbSNP | Ensembl ].		VAR_046990
	Natural variant	377	1	A → V. Corresponds to variant rs34293483 [ dbSNP | Ensembl ].		VAR_046991
Experimental info
	Sequence conflict	153 – 154	2	QL → HV in CAA60378. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q15323 [UniParc]. Last modified October 14, 2008. Version 3. Checksum: C284DD33A4896009	FASTA	416	47,237
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00032513.
PIR	S60034.
RefSeq	NP_002268.2. NM_002277.2.
UniGene	Hs.41696.
3D structure databases
ProteinModelPortal	Q15323.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q15323. 9 interactions.
MINT	MINT-2860287.
STRING	9606.ENSP00000251645.
PTM databases
PhosphoSite	Q15323.
Polymorphism databases
DMDM	209572740.
Proteomic databases
PaxDb	Q15323.
PRIDE	Q15323.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000251645; ENSP00000251645; ENSG00000094796. ENST00000573281; ENSP00000460739; ENSG00000262993.
GeneID	3881.
KEGG	hsa:3881.
UCSC	uc002hwn.3. human.
Organism-specific databases
CTD	3881.
GeneCards	GC17M039549.
H-InvDB	HIX0039252.
HGNC	HGNC:6448. KRT31.
MIM	601077. gene.
neXtProt	NX_Q15323.
PharmGKB	PA30237.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG321598.
HOGENOM	HOG000230975.
HOVERGEN	HBG013015.
InParanoid	Q15323.
KO	K07604.
OMA	IREWCQE.
OrthoDB	EOG4CZBG2.
PhylomeDB	Q15323.
Gene expression databases
ArrayExpress	Q15323.
Bgee	Q15323.
CleanEx	HS_KRT31.
Genevestigator	Q15323.
GermOnline	ENSG00000094796. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR002957. Keratin_I. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01248. TYPE1KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3881.
NextBio	15235.
SOURCE	Search...

Entry information

Entry name

K1H1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 102 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.