Reviewed, UniProtKB/Swiss-Prot P78386 (KRT85_HUMAN)

Names and origin

Protein names

Recommended name:
    Keratin, type II cuticular Hb5
Alternative name(s):
    Type II hair keratin Hb5
    Keratin-85
      Short name=K85
    K12.12

Gene names

Name:	KRT85
Synonyms:	KRTHB5

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	507 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
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	Defects in KRT85 are the cause of ectodermal dysplasia pure hair-nail type (EDPHN) [MIM:602032]. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EDPHN 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. 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.
Caution	Maps to a duplicated region on chromosome 12.

Ontologies

Keywords
Cellular component	Intermediate filament Keratin
Coding sequence diversity	Polymorphism
Disease	Disease mutation Ectodermal dysplasia
Domain	Coiled coil
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	epidermis development Ref.1 Traceable author statement. Source: ProtInc
Cellular component	keratin filament Inferred from electronic annotation. Source: InterPro
Molecular function	protein binding Inferred from physical interaction. Source: IntAct structural molecule activity Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CDC20	Q12834	1	EBI-1049371,EBI-367462
CDC25B	P30305	1	EBI-1049371,EBI-1051746
DLG3	Q92796	1	EBI-1049371,EBI-80440
LYAR	Q9NX58	1	EBI-1049371,EBI-713507
PLEKHB2	Q96CS7	1	EBI-1049371,EBI-373552
TWF2	Q6IBS0	1	EBI-1049371,EBI-722204
YWHAG	P61981	1	EBI-1049371,EBI-359832

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 EDPHN. Ref.3		VAR_029657
	Natural variant	155	1	W → L: dbSNP rs2852471.		VAR_049804
Experimental info
	Sequence conflict	155	1	W → V in CAB76830. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	P78386-1 [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: 9084137] [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: 10692104] [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: 16525032] [Abstract] Cited for: VARIANT EDPHN HIS-78.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	X99140 mRNA. Translation: CAA67577.1. Y19210 Genomic DNA. Translation: CAB76830.1.
IPI	IPI00032541.
RefSeq	NP_002274.1.
UniGene	Hs.182507
3D structure databases
HSSP	HSSP built from PDB template 1GK7 based on UniProtKB P08670.
ModBase	Search...
Protein-protein interaction databases
IntAct	P78386. 10 interactions.
Proteomic databases
PeptideAtlas	P78386.
PRIDE	P78386.
Genome annotation databases
Ensembl	ENSG00000135443. Homo sapiens. [Contig view]
GeneID	3891.
KEGG	hsa:3891.
UCSC	uc001sag.1. human.
Organism-specific databases
GeneCards	GC12M051041.
H-InvDB	HIX0036866.
HGNC	HGNC:6462. KRT85.
MIM	602032. phenotype. 602767. gene.
Orphanet	69084. Ectodermal dysplasia, ''pure'' hair-nail type.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	P78386.
OMA	P78386. NLGSCGP.
Gene expression databases
ArrayExpress	P78386.
Bgee	P78386.
CleanEx	HS_KRT85.
GermOnline	ENSG00000135443. Homo sapiens.
Family and domain databases
InterPro	IPR016044. F. IPR001664. IF. IPR018039. Intermediate_filament_CS. IPR003054. Keratin_II. [Graphical view]
PANTHER	PTHR23239. IF. 1 hit. PTHR23239:SF18. Keratin_II. 1 hit.
Pfam	PF00038. Filament. 1 hit. [Graphical view]
PRINTS	PR01276. TYPE2KERATIN.
PROSITE	PS00226. IF. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
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:	July 7, 2009
This is version 69 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)