Q14532 (K1H2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Keratin, type I cuticular Ha2

Alternative name(s):
Hair keratin, type I Ha2
Keratin-32
Short name=K32

Gene names

Name:	KRT32
Synonyms:	HHA2, HKA2, KRTHA2

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	448 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Tissue specificity	Restricted to the hair cuticle.
Miscellaneous	There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).
Sequence similarities	Belongs to the intermediate filament family.
Sequence caution	The sequence CAA57179.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

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.4. Source: ProtInc
Cellular_component	intermediate filament Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	structural molecule activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 448	448	Keratin, type I cuticular Ha2		PRO_0000063686
Regions
	Region	1 – 96	96	Head
	Region	97 – 403	307	Rod
	Region	97 – 131	35	Coil 1A
	Region	132 – 142	11	Linker 1
	Region	143 – 243	101	Coil 1B
	Region	244 – 259	16	Linker 12
	Region	260 – 403	144	Coil 2
	Region	404 – 448	45	Tail
Sites
	Site	345	1	Stutter
Natural variations
	Natural variant	72	1	Q → R. Corresponds to variant rs3744786 [ dbSNP | Ensembl ].		VAR_056011
	Natural variant	151	1	E → D. Ref.1 Ref.4 Corresponds to variant rs1111168 [ dbSNP | Ensembl ].		VAR_060237
	Natural variant	171	1	I → T. Corresponds to variant rs2071560 [ dbSNP | Ensembl ].		VAR_056012
	Natural variant	222	1	S → Y. Corresponds to variant rs2071561 [ dbSNP | Ensembl ].		VAR_056013
	Natural variant	280	1	R → H. Corresponds to variant rs72830046 [ dbSNP | Ensembl ].		VAR_060238
	Natural variant	339	1	T → M. Corresponds to variant rs16966929 [ dbSNP | Ensembl ].		VAR_056014
	Natural variant	395	1	T → M. Corresponds to variant rs2071563 [ dbSNP | Ensembl ].		VAR_056015
	Natural variant	402	1	N → S. Ref.1 Ref.4 Corresponds to variant rs2604955 [ dbSNP | Ensembl ].		VAR_060239
	Natural variant	427	1	P → T. Ref.1 Ref.4 Corresponds to variant rs2604953 [ dbSNP | Ensembl ].		VAR_060240
	Natural variant	428	1	R → C. Corresponds to variant rs9893787 [ dbSNP | Ensembl ].		VAR_056016
Experimental info
	Sequence conflict	152	1	E → Q in CAA62284. Ref.1
	Sequence conflict	152	1	E → Q in CAA57179. Ref.4
	Sequence conflict	371	1	D → E in CAA62284. Ref.1
	Sequence conflict	371	1	D → E in CAA57179. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Q14532 [UniParc]. Last modified November 2, 2010. Version 3. Checksum: F223A4F828B7EACB	FASTA	448	50,343
	10 20 30 40 50 60 MTSSCCVTNN LQASLKSCPR PASVCSSGVN CRPELCLGYV CQPMACLPSV CLPTTFRPAS 70 80 90 100 110 120 CLSKTYLSSS CQAASGISGS MGPGSWYSEG AFNGNEKETM QFLNDRLASY LTRVRQLEQE 130 140 150 160 170 180 NAELESRIQE ASHSQVLTMT PDYQSHFRTI EELQQKILCT KAENARMVVN IDNAKLAADD 190 200 210 220 230 240 FRAKYEAELA MRQLVEADIN GLRRILDDLT LCKADLEAQV ESLKEELMCL KKNHEEEVGS 250 260 270 280 290 300 LRCQLGDRLN IEVDAAPPVD LTRVLEEMRC QYEAMVEANR RDVEEWFNMQ MEELNQQVAT 310 320 330 340 350 360 SSEQLQNYQS DIIDLRRTVN TLEIELQAQH SLRDSLENTL TESEARYSSQ LAQMQCMITN 370 380 390 400 410 420 VEAQLAEIRA DLERQNQEYQ VLLDVRARLE GEINTYRSLL ENEDCKLPCN PCSTPSCTTC 430 440 VPSPCVPRTV CVPRTVGMPC SPCPQGRY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Genomic characterization of the human type I cuticular hair keratin hHa2 and identification of an adjacent novel type I hair keratin gene hHa5." Rogers M.A., Winter H., Langbein L., Krieg T., Schweizer J. J. Invest. Dermatol. 107:633-638(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ASP-151; SER-402 AND THR-427. Tissue: Hair.
[2]	Rogers M.A. Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION TO N-TERMINUS.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"Sequence data and chromosomal localization of human type I and type II hair keratin genes." Rogers M.A., Nischt R., Korge B., Krieg T., Fink T.M., Lichter P., Winter H., Schweizer J. Exp. Cell Res. 220:357-362(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 35-448, VARIANTS ASP-151; SER-402 AND THR-427. Tissue: Hair.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X90761 Genomic DNA. Translation: CAA62284.1. AC019349 Genomic DNA. No translation available. X81419 mRNA. Translation: CAA57179.1. Different initiation.
IPI	IPI00291540.
RefSeq	NP_002269.3. NM_002278.3.
UniGene	Hs.41752.
3D structure databases
ProteinModelPortal	Q14532.
SMR	Q14532. Positions 150-245, 314-401.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q14532. 1 interaction.
PTM databases
PhosphoSite	Q14532.
Polymorphism databases
DMDM	311033432.
Proteomic databases
PaxDb	Q14532.
PeptideAtlas	Q14532.
PRIDE	Q14532.
Protocols and materials databases
DNASU	3882.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000225899; ENSP00000225899; ENSG00000108759.
GeneID	3882.
KEGG	hsa:3882.
UCSC	uc002hwr.3. human.
Organism-specific databases
CTD	3882.
GeneCards	GC17M039615.
H-InvDB	HIX0202544.
HGNC	HGNC:6449. KRT32.
HPA	HPA040330.
MIM	602760. gene.
neXtProt	NX_Q14532.
PharmGKB	PA30238.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG149251.
HOGENOM	HOG000230975.
HOVERGEN	HBG013015.
InParanoid	Q14532.
KO	K07604.
OMA	ARMVVNI.
OrthoDB	EOG4HDSTJ.
PhylomeDB	Q14532.
Gene expression databases
Bgee	Q14532.
CleanEx	HS_KRT32.
Genevestigator	Q14532.
GermOnline	ENSG00000108759. 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	3882.
NextBio	15239.
SOURCE	Search...

Entry information

Entry name

K1H2_HUMAN

Accession

Primary (citable) accession number: Q14532

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	November 2, 2010
Last modified:	May 1, 2013
This is version 99 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.