P78386 (KRT85_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Keratin, type II cuticular Hb5

Alternative name(s):
Hair keratin K2.12
Keratin-85
Short name=K85
Type II hair keratin Hb5
Type-II keratin Kb25

Gene names

Name:	KRT85
Synonyms:	KRTHB5

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

General annotation (Comments)

Subunit structure	Heterotetramer of two type I and two type II keratins.
Tissue specificity	Synthesis occurs immediately above a small population of matrix cells at the base of the hair bulb and the trichocytes lining the dermal papilla and extends upward through the matrix and ends in the lower part of the cortex of the hair shaft. Ref.1
Involvement in disease	Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3
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
Disease	Disease mutation Ectodermal dysplasia
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	keratin filament Inferred from electronic annotation. Source: InterPro
Molecular_function	structural molecule activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 507	507	Keratin, type II cuticular Hb5		PRO_0000063702
Regions
	Region	1 – 123	123	Head
	Region	124 – 430	307	Rod
	Region	124 – 158	35	Coil 1A
	Region	159 – 168	10	Linker 1
	Region	169 – 269	101	Coil 1B
	Region	270 – 286	17	Linker 12
	Region	287 – 430	144	Coil 2
	Region	431 – 507	77	Tail
Natural variations
	Natural variant	78	1	R → H in ECTD4. Ref.3 Corresponds to variant rs61630004 [ dbSNP | Ensembl ].		VAR_029657
	Natural variant	155	1	W → L. Corresponds to variant rs2852471 [ dbSNP | Ensembl ].		VAR_049804
Experimental info
	Sequence conflict	155	1	W → V in CAB76830. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P78386 [UniParc]. Last modified May 1, 1997. Version 1. Checksum: 0A3E5ABEAAF4C04D	FASTA	507	55,802
	10 20 30 40 50 60 MSCRSYRISS GCGVTRNFSS CSAVAPKTGN RCCISAAPYR GVSCYRGLTG FGSRSLCNLG 70 80 90 100 110 120 SCGPRIAVGG FRAGSCGRSF GYRSGGVCGP SPPCITTVSV NESLLTPLNL EIDPNAQCVK 130 140 150 160 170 180 QEEKEQIKSL NSRFAAFIDK VRFLEQQNKL LETKWQFYQN QRCCESNLEP LFSGYIETLR 190 200 210 220 230 240 REAECVEADS GRLASELNHV QEVLEGYKKK YEEEVALRAT AENEFVVLKK DVDCAYLRKS 250 260 270 280 290 300 DLEANVEALV EESSFLRRLY EEEIRVLQAH ISDTSVIVKM DNSRDLNMDC IIAEIKAQYD 310 320 330 340 350 360 DVASRSRAEA ESWYRSKCEE MKATVIRHGE TLRRTKEEIN ELNRMIQRLT AEIENAKCQR 370 380 390 400 410 420 AKLEAAVAEA EQQGEAALSD ARCKLAELEG ALQKAKQDMA CLLKEYQEVM NSKLGLDIEI 430 440 450 460 470 480 ATYRRLLEGE EHRLCEGVGS VNVCVSSSRG GVSCGGLSYS TTPGRQITSG PSAIGGSITV 490 500 VAPDSCAPCQ PRSSSFSCGS SRSVRFA

References

[1]	"Sequences and differential expression of three novel human type-II hair keratins." Rogers M.A., Langbein L., Praetzel S., Krieg T., Winter H., Schweizer J. Differentiation 61:187-194(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"Characterization of a 300 kbp region of human DNA containing the type II hair keratin." Rogers M.A., Winter H., Langbein L., Wolf C., Schweizer J. J. Invest. Dermatol. 114:464-472(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[3]	"A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type." Naeem M., Wajid M., Lee K., Leal S.M., Ahmad W. J. Med. Genet. 43:274-279(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ECTD4 HIS-78.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X99140 mRNA. Translation: CAA67577.1. Y19210 Genomic DNA. Translation: CAB76830.1.
IPI	IPI00032541.
RefSeq	NP_002274.1. NM_002283.3.
UniGene	Hs.182507.
3D structure databases
ProteinModelPortal	P78386.
ModBase	Search...
Protein-protein interaction databases
IntAct	P78386. 10 interactions.
STRING	9606.ENSP00000257901.
PTM databases
PhosphoSite	P78386.
Polymorphism databases
DMDM	48474780.
Proteomic databases
PaxDb	P78386.
PeptideAtlas	P78386.
PRIDE	P78386.
Protocols and materials databases
DNASU	3891.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257901; ENSP00000257901; ENSG00000135443.
GeneID	3891.
KEGG	hsa:3891.
UCSC	uc001sag.3. human.
Organism-specific databases
CTD	3891.
GeneCards	GC12M052753.
HGNC	HGNC:6462. KRT85.
MIM	602032. phenotype. 602767. gene.
neXtProt	NX_P78386.
Orphanet	69084. Pure hair and nail ectodermal dysplasia.
PharmGKB	PA30251.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG150019.
HOGENOM	HOG000230976.
HOVERGEN	HBG013015.
InParanoid	P78386.
KO	K07605.
OMA	SCGPRMA.
OrthoDB	EOG4B2SX3.
PhylomeDB	P78386.
Gene expression databases
ArrayExpress	P78386.
Bgee	P78386.
CleanEx	HS_KRT85.
Genevestigator	P78386.
GermOnline	ENSG00000135443. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR003054. Keratin_II. [Graphical view]
PANTHER	PTHR23239. PTHR23239. 1 hit. PTHR23239:SF18. PTHR23239:SF18. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01276. TYPE2KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	3891.
NextBio	15277.
SOURCE	Search...

Entry information

Entry name

KRT85_HUMAN

Accession

Primary (citable) accession number: P78386
Secondary accession number(s): Q9NSB1

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 29, 2004
Last sequence update:	May 1, 1997
Last modified:	May 1, 2013
This is version 105 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.