Q9BQ66 (KR412_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Keratin-associated protein 4-12

Alternative name(s):
Keratin-associated protein 4.12
Ultrahigh sulfur keratin-associated protein 4.12

Gene names

Name:	KRTAP4-12
Synonyms:	KAP4.12, KRTAP4.12

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

General annotation (Comments)

Function	In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (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	Expressed in the hair follicles. Ref.4
Polymorphism	Numerous size polymorphism are present in KRTAP4 gene family, which are mainly due to variations in the sequence encoding cysteine-rich repeat segments.
Sequence similarities	Belongs to the KRTAP type 4 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...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
Hoxa1	P09022	4	EBI-739863,EBI-3957603	From a different organism.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 201	201	Keratin-associated protein 4-12		PRO_0000185178
Regions
	Repeat	5 – 9	5	1
	Repeat	20 – 24	5	2
	Repeat	25 – 29	5	3
	Repeat	30 – 34	5	4
	Repeat	35 – 39	5	5
	Repeat	40 – 44	5	6
	Repeat	45 – 49	5	7
	Repeat	50 – 54	5	8
	Repeat	55 – 59	5	9
	Repeat	60 – 64	5	10
	Repeat	65 – 69	5	11
	Repeat	70 – 74	5	12
	Repeat	75 – 79	5	13
	Repeat	80 – 84	5	14
	Repeat	85 – 89	5	15
	Repeat	90 – 94	5	16
	Repeat	95 – 99	5	17
	Repeat	100 – 104	5	18
	Repeat	105 – 109	5	19
	Repeat	110 – 114	5	20
	Repeat	115 – 119	5	21
	Repeat	120 – 124	5	22
	Repeat	125 – 129	5	23
	Repeat	130 – 134	5	24
	Repeat	135 – 139	5	25
	Repeat	140 – 144	5	26
	Repeat	145 – 149	5	27
	Repeat	155 – 159	5	28
	Repeat	160 – 164	5	29
	Repeat	165 – 169	5	30
	Region	5 – 169	165	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]-[VSTQPC]
Natural variations
	Natural variant	105 – 144	40	Missing in allele KAP4.12-v1.		VAR_064563

Sequences

	Sequence		Length	Mass (Da)
	Q9BQ66 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: 7548ED69BF432804	FASTA	201	21,407
	10 20 30 40 50 60 MVNSCCGSVC SDQGCGLENC CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC 70 80 90 100 110 120 CRPSCCQTTC CRTTCCRPSC CVSSCCRPQC CQSVCCQPTC CRPSCCQTTC CRTTCCRPSC 130 140 150 160 170 180 CVSSCCRPQC CQSVCCQPTC CRPSCCISSS CCPSCCESSC CRPCCCLRPV CGRVSCHTTC 190 200 YRPTCVISTC PRPLCCASSC C

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of a cluster of human high/ultrahigh sulfur keratin-associated protein genes embedded in the type I keratin gene domain on chromosome 17q12-21." Rogers M.A., Langbein L., Winter H., Ehmann C., Praetzel S., Korn B., Schweizer J. J. Biol. Chem. 276:19440-19451(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Scalp.
[2]	"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].
[3]	"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]. Tissue: Muscle.
[4]	"Size polymorphisms in the human ultrahigh sulfur hair keratin-associated protein 4, KAP4, gene family." Kariya N., Shimomura Y., Ito M. J. Invest. Dermatol. 124:1111-1118(2005) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, POLYMORPHISM, VARIANT 105-CYS--SER-144 DEL.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AJ406943 mRNA. Translation: CAC27582.1. AC100808 Genomic DNA. No translation available. BC004180 mRNA. Translation: AAH04180.1. BC004212 mRNA. Translation: AAH04212.1. BC101159 mRNA. Translation: AAI01160.1. BC101160 mRNA. Translation: AAI01161.1. BC101162 mRNA. Translation: AAI01163.1.
IPI	IPI00010788.
RefSeq	NP_114060.1. NM_031854.2.
UniGene	Hs.572443.
3D structure databases
ProteinModelPortal	Q9BQ66.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BQ66. 75 interactions.
MINT	MINT-1441052.
STRING	9606.ENSP00000377582.
Polymorphism databases
DMDM	38258229.
Proteomic databases
PaxDb	Q9BQ66.
PRIDE	Q9BQ66.
Protocols and materials databases
DNASU	83755.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000394014; ENSP00000377582; ENSG00000213416. ENST00000571271; ENSP00000458979; ENSG00000263236.
GeneID	83755.
KEGG	hsa:83755.
UCSC	uc002hwa.3. human.
Organism-specific databases
CTD	83755.
GeneCards	GC17M039280.
HGNC	HGNC:16776. KRTAP4-12.
neXtProt	NX_Q9BQ66.
PharmGKB	PA38416.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOGENOM	HOG000234030.
InParanoid	Q9BQ66.
OMA	ICVISSC.
Gene expression databases
Bgee	Q9BQ66.
CleanEx	HS_KRTAP4-12.
Genevestigator	Q9BQ66.
GermOnline	ENSG00000186852. Homo sapiens.
Family and domain databases
InterPro	IPR002494. Keratin-assoc. [Graphical view]
PANTHER	PTHR23262. PTHR23262. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	83755.
NextBio	72781.

Entry information

Entry name

KR412_HUMAN

Accession

Primary (citable) accession number: Q9BQ66
Secondary accession number(s): A3KMC5, Q495I0

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2003
Last sequence update:	June 1, 2001
Last modified:	April 3, 2013
This is version 83 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.