Q6L8H2 (KRA53_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Keratin-associated protein 5-3

Alternative name(s):
Keratin-associated protein 5-9
Keratin-associated protein 5.3
Keratin-associated protein 5.9
UHS KerB-like
Ultrahigh sulfur keratin-associated protein 5.3

Gene names

Name:	KRTAP5-3
Synonyms:	KAP5-9, KAP5.3, KRTAP5-9, KRTAP5.3, KRTAP5.9

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	238 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (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.
Subunit structure	Interacts with hair keratins.
Tissue specificity	Restricted to hair root, not detected in any other tissues. Ref.1
Sequence similarities	Belongs to the KRTAP type 5 family.

Ontologies

Keywords
Cellular component	Keratin
Coding sequence diversity	Polymorphism
Domain	Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	keratin filament 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 – 238	238	Keratin-associated protein 5-3		PRO_0000184101
Regions
	Repeat	35 – 38	4	1
	Repeat	41 – 44	4	2
	Repeat	47 – 50	4	3
	Repeat	91 – 94	4	4
	Repeat	150 – 153	4	5
	Repeat	160 – 163	4	6
	Repeat	170 – 173	4	7
	Repeat	189 – 192	4	8
	Repeat	199 – 202	4	9
	Repeat	218 – 221	4	10
	Repeat	228 – 231	4	11
	Region	35 – 231	197	11 X 4 AA repeats of C-C-X-P
Natural variations
	Natural variant	27	1	G → S. Corresponds to variant rs7129002 [ dbSNP | Ensembl ].		VAR_060115
	Natural variant	28	1	Y → C. Corresponds to variant rs7108370 [ dbSNP | Ensembl ].		VAR_060116
	Natural variant	73	1	C → S. Corresponds to variant rs7125831 [ dbSNP | Ensembl ].		VAR_060117
	Natural variant	76	1	G → V. Corresponds to variant rs7125826 [ dbSNP | Ensembl ].		VAR_060118
	Natural variant	83	1	S → C. Corresponds to variant rs7113784 [ dbSNP | Ensembl ].		VAR_060119
Experimental info
	Sequence conflict	4	1	S → C in AAT09005. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q6L8H2 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: E3D415F060B6DC4B	FASTA	238	22,106
	10 20 30 40 50 60 MGCSGCSGGC GSSCGGCGSS CGGCGSGYGG CGSGCCVPVC CCKPVCCCVP ACSCSSCGSC 70 80 90 100 110 120 GGSKGVCGSC GGCKGGCGSC GGSKGGCGSS CCVPVCCSSS CGSCGGSKGV CGFRGGSKGG 130 140 150 160 170 180 CGSCGCSQCS CYKPCCCSSG CGSSCCQSSC CKPSCSQSSC CKPCCSQSSC CKPCCCSSGC 190 200 210 220 230 GSSCCQSSCC KPCCSQSSCC KPCCCSSGCG SSCCQSSCCK PCSSQSSCCV PICCQCKI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11." Yahagi S., Shibuya K., Obayashi I., Masaki H., Kurata Y., Kudoh J., Shimizu N. Biochem. Biophys. Res. Commun. 318:655-664(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Hair root.
[2]	"Characterization of two domains of keratin associated protein (KAP) family members on human chromosome 11." Rogers M.A., Langbein L., Winter H., Praetzel S., Schweizer J. Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 72-238. Tissue: Scalp.
[3]	Li H., Zhong G., Zhou G., Shen C., Ke R., Lin L., Yang S. Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB126072 mRNA. Translation: BAD20199.1. AJ628246 mRNA. Translation: CAF31638.1. AY597812 mRNA. Translation: AAT09005.1.
IPI	IPI00438002.
RefSeq	NP_001012726.1. NM_001012708.2.
UniGene	Hs.532471.
3D structure databases
ProteinModelPortal	Q6L8H2.
SMR	Q6L8H2. Positions 172-236.
ModBase	Search...
Polymorphism databases
DMDM	56749059.
Proteomic databases
PaxDb	Q6L8H2.
PRIDE	Q6L8H2.
Protocols and materials databases
DNASU	387266.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000399685; ENSP00000382592; ENSG00000196224.
GeneID	387266.
KEGG	hsa:387266.
UCSC	uc001ltw.1. human.
Organism-specific databases
CTD	387266.
GeneCards	GC11M001628.
HGNC	HGNC:23598. KRTAP5-3.
neXtProt	NX_Q6L8H2.
PharmGKB	PA134865306.
GenAtlas	Search...
Phylogenomic databases
OMA	CGGSKGV.
Gene expression databases
CleanEx	HS_KRTAP5-3. HS_KRTAP5-9.
Genevestigator	Q6L8H2.
Family and domain databases
InterPro	IPR002494. Keratin-assoc. [Graphical view]
PANTHER	PTHR23262. PTHR23262. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	387266.
NextBio	101252.

Entry information

Entry name

KRA53_HUMAN

Accession

Primary (citable) accession number: Q6L8H2
Secondary accession number(s): Q6PL44, Q701N3

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 21, 2004
Last sequence update:	July 5, 2004
Last modified:	April 3, 2013
This is version 65 of the entry and version 1 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.