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Q14532 (K1H2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. 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 Ha2
Alternative name(s):
Hair keratin, type I Ha2
Keratin-32
Short name=K32
Gene names
Name:KRT32
Synonyms:HHA2, HKA2, KRTHA2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length448 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentIntermediate filament
Keratin
   Coding sequence diversityPolymorphism
   DomainCoiled coil
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processepidermis development

Traceable author statement Ref.4. Source: ProtInc

   Cellular_componentintermediate filament

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionstructural molecule activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 448448Keratin, type I cuticular Ha2
PRO_0000063686

Regions

Region1 – 9696Head
Region97 – 403307Rod
Region97 – 13135Coil 1A
Region132 – 14211Linker 1
Region143 – 243101Coil 1B
Region244 – 25916Linker 12
Region260 – 403144Coil 2
Region404 – 44845Tail

Sites

Site3451Stutter

Natural variations

Natural variant721Q → R.
Corresponds to variant rs3744786 [ dbSNP | Ensembl ].
VAR_056011
Natural variant891E → K. Ref.5
VAR_069391
Natural variant1511E → D. Ref.1 Ref.4
Corresponds to variant rs1111168 [ dbSNP | Ensembl ].
VAR_060237
Natural variant1711I → T.
Corresponds to variant rs2071560 [ dbSNP | Ensembl ].
VAR_056012
Natural variant2221S → Y.
Corresponds to variant rs2071561 [ dbSNP | Ensembl ].
VAR_056013
Natural variant2801R → H.
Corresponds to variant rs72830046 [ dbSNP | Ensembl ].
VAR_060238
Natural variant3391T → M.
Corresponds to variant rs16966929 [ dbSNP | Ensembl ].
VAR_056014
Natural variant3951T → M.
Corresponds to variant rs2071563 [ dbSNP | Ensembl ].
VAR_056015
Natural variant4021N → S. Ref.1 Ref.4
Corresponds to variant rs2604955 [ dbSNP | Ensembl ].
VAR_060239
Natural variant4271P → T. Ref.1 Ref.4
Corresponds to variant rs2604953 [ dbSNP | Ensembl ].
VAR_060240
Natural variant4281R → C.
Corresponds to variant rs9893787 [ dbSNP | Ensembl ].
VAR_056016

Experimental info

Sequence conflict1521E → Q in CAA62284. Ref.1
Sequence conflict1521E → Q in CAA57179. Ref.4
Sequence conflict3711D → E in CAA62284. Ref.1
Sequence conflict3711D → E in CAA57179. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Q14532 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: F223A4F828B7EACB

FASTA44850,343
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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.
[5]"Diagnostic exome sequencing in persons with severe intellectual disability."
de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G., Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C., del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G., Veltman J.A., Vissers L.E.
N. Engl. J. Med. 367:1921-1929(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LYS-89.

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.
CCDSCCDS11393.1.
RefSeqNP_002269.3. NM_002278.3.
UniGeneHs.41752.

3D structure databases

ProteinModelPortalQ14532.
SMRQ14532. Positions 99-131, 150-245, 314-401.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110080. 3 interactions.
IntActQ14532. 1 interaction.

PTM databases

PhosphoSiteQ14532.

Polymorphism databases

DMDM311033432.

Proteomic databases

MaxQBQ14532.
PaxDbQ14532.
PeptideAtlasQ14532.
PRIDEQ14532.

Protocols and materials databases

DNASU3882.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000225899; ENSP00000225899; ENSG00000108759.
GeneID3882.
KEGGhsa:3882.
UCSCuc002hwr.3. human.

Organism-specific databases

CTD3882.
GeneCardsGC17M039615.
H-InvDBHIX0202544.
HGNCHGNC:6449. KRT32.
HPAHPA040330.
MIM602760. gene.
neXtProtNX_Q14532.
PharmGKBPA30238.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG149251.
HOGENOMHOG000230975.
HOVERGENHBG013015.
InParanoidQ14532.
KOK07604.
OMAEEWFNMQ.
OrthoDBEOG7FV3Q8.
PhylomeDBQ14532.
TreeFamTF332742.

Gene expression databases

BgeeQ14532.
CleanExHS_KRT32.
GenevestigatorQ14532.

Family and domain databases

InterProIPR009030. Growth_fac_rcpt_N_dom.
IPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR002957. Keratin_I.
[Graphical view]
PANTHERPTHR23239. PTHR23239. 1 hit.
PfamPF00038. Filament. 1 hit.
[Graphical view]
PRINTSPR01248. TYPE1KERATIN.
SUPFAMSSF57184. SSF57184. 2 hits.
PROSITEPS00226. IF. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKRT32.
GenomeRNAi3882.
NextBio15239.
PROQ14532.
SOURCESearch...

Entry information

Entry nameK1H2_HUMAN
AccessionPrimary (citable) accession number: Q14532
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 109 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