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Protein

Keratin, type II cytoskeletal 72

Gene

KRT72

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Has a role in hair formation. Specific component of keratin intermediate filaments in the inner root sheath (IRS) of the hair follicle (Probable).Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei376Stutter1

GO - Molecular functioni

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended name:
Keratin, type II cytoskeletal 72
Alternative name(s):
Cytokeratin-72
Short name:
CK-72
Keratin-72
Short name:
K72
Type II inner root sheath-specific keratin-K6irs2
Type-II keratin Kb35
Gene namesi
Name:KRT72
Synonyms:K6IRS2, KB35, KRT6, KRT6IRS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:28932. KRT72.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • keratin filament Source: InterPro
Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament, Keratin

Pathology & Biotechi

Organism-specific databases

DisGeNETi140807.
OpenTargetsiENSG00000170486.
PharmGKBiPA147357719.

Polymorphism and mutation databases

BioMutaiKRT72.
DMDMi166218813.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003148771 – 511Keratin, type II cytoskeletal 72Add BLAST511

Proteomic databases

PaxDbiQ14CN4.
PeptideAtlasiQ14CN4.
PRIDEiQ14CN4.

PTM databases

iPTMnetiQ14CN4.
PhosphoSitePlusiQ14CN4.
SwissPalmiQ14CN4.

Expressioni

Tissue specificityi

Highly expressed in hair follicles from scalp and eyebrow. Also expressed in palmoplantar epidermis. Not expressed in face skin despite the presence of fine hairs histologically. In hair, it is specifically present in the inner root sheath (IRS) of the hair follicle. Present in the IRS cuticle, but not in Henle or Huxley layers of the IRS. In the IRS cuticle, its presence is delayed up to the height of the apex of the dermal papilla (at protein level).3 Publications

Gene expression databases

BgeeiENSG00000170486.
CleanExiHS_KRT72.
ExpressionAtlasiQ14CN4. baseline and differential.
GenevisibleiQ14CN4. HS.

Interactioni

Subunit structurei

Heterotetramer of two type I and two type II keratins.

Binary interactionsi

WithEntry#Exp.IntActNotes
KRT40Q6A1623EBI-1221280,EBI-10171697

Protein-protein interaction databases

BioGridi126715. 6 interactors.
IntActiQ14CN4. 14 interactors.
STRINGi9606.ENSP00000293745.

Structurei

3D structure databases

ProteinModelPortaliQ14CN4.
SMRiQ14CN4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 124HeadAdd BLAST124
Regioni125 – 434RodAdd BLAST310
Regioni125 – 160Coil 1AAdd BLAST36
Regioni161 – 179Linker 1Add BLAST19
Regioni180 – 271Coil 1BAdd BLAST92
Regioni272 – 295Linker 12Add BLAST24
Regioni296 – 434Coil 2Add BLAST139
Regioni435 – 511TailAdd BLAST77

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi10 – 96Gly-richAdd BLAST87

Sequence similaritiesi

Belongs to the intermediate filament family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IQKP. Eukaryota.
ENOG4111AD7. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ14CN4.
KOiK07605.
OMAiSYSYKTA.
OrthoDBiEOG091G09KR.
PhylomeDBiQ14CN4.
TreeFamiTF317854.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q14CN4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSRQLTHFPR GERLGFSGCS AVLSGGIGSS SASFRARVKG SASFGSKSLS
60 70 80 90 100
CLGGSRSLAL SAAARRGGGR LGGFVGTAFG SAGLGPKCPS VCPPGGIPQV
110 120 130 140 150
TVNKSLLAPL NVEMDPEIQR VRAQEREQIK ALNNKFASFI DKVRFLEQQN
160 170 180 190 200
QVLETKWNLL QQLDLNNCRK NLEPIYEGYI SNLQKQLEML SGDGVRLDSE
210 220 230 240 250
LRNMQDLVED YKKRYEVEIN RRTAAENEFV VLKKDVDAAY MNKVELQAKV
260 270 280 290 300
DSLTDEIKFF KCLYEGEITQ IQSHISDTSI VLSMDNNRDL DLDSIIAEVR
310 320 330 340 350
AQYEEIALKS KAEAETLYQT KIQELQVTAG QHGDDLKLTK AEISELNRLI
360 370 380 390 400
QRIRSEIGNV KKQCADLETA IADAEQRGDC ALKDARAKLD ELEGALHQAK
410 420 430 440 450
EELARMLREY QELVSLKLAL DMEIATYRKL LESEECRMSG EYPNSVSISV
460 470 480 490 500
ISSTNAGAGG AGFSMGFGAS SSYSYKTAAA DVKTKGSCGS ELKDPLAKTS
510
GSSCATKKAS R
Length:511
Mass (Da):55,877
Last modified:January 15, 2008 - v2
Checksum:i61E830C382063731
GO
Isoform 2 (identifier: Q14CN4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     363-363: Missing.

Show »
Length:510
Mass (Da):55,749
Checksum:i93AAAF9D75378EE7
GO
Isoform 3 (identifier: Q14CN4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     322-363: Missing.

Note: No experimental confirmation available.
Show »
Length:469
Mass (Da):51,124
Checksum:i297E42CB2BED56C8
GO

Sequence cautioni

The sequence BAC04039 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038087171N → D.1 PublicationCorresponds to variant rs11170187dbSNPEnsembl.1
Natural variantiVAR_038088264Y → C.1 PublicationCorresponds to variant rs12833456dbSNPEnsembl.1
Natural variantiVAR_061298326Q → E.Corresponds to variant rs34769047dbSNPEnsembl.1
Natural variantiVAR_038089366D → E.1 PublicationCorresponds to variant rs7310138dbSNPEnsembl.1
Natural variantiVAR_038090428R → L.1 PublicationCorresponds to variant rs11170183dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045280322 – 363Missing in isoform 3. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_030416363Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY033496 Genomic DNA. Translation: AAK55109.1.
AY033495 mRNA. Translation: AAK55108.1.
AK093060 mRNA. Translation: BAC04039.1. Different initiation.
AK293645 mRNA. Translation: BAG57099.1.
AC055715 Genomic DNA. No translation available.
BC113686 mRNA. Translation: AAI13687.1.
CCDSiCCDS53795.1. [Q14CN4-3]
CCDS8833.1. [Q14CN4-1]
RefSeqiNP_001139697.1. NM_001146225.1. [Q14CN4-1]
NP_001139698.1. NM_001146226.1. [Q14CN4-3]
NP_542785.1. NM_080747.2. [Q14CN4-1]
UniGeneiHs.662013.

Genome annotation databases

EnsembliENST00000293745; ENSP00000293745; ENSG00000170486. [Q14CN4-1]
ENST00000354310; ENSP00000346269; ENSG00000170486. [Q14CN4-3]
ENST00000537672; ENSP00000441160; ENSG00000170486. [Q14CN4-1]
GeneIDi140807.
KEGGihsa:140807.
UCSCiuc001saq.2. human. [Q14CN4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY033496 Genomic DNA. Translation: AAK55109.1.
AY033495 mRNA. Translation: AAK55108.1.
AK093060 mRNA. Translation: BAC04039.1. Different initiation.
AK293645 mRNA. Translation: BAG57099.1.
AC055715 Genomic DNA. No translation available.
BC113686 mRNA. Translation: AAI13687.1.
CCDSiCCDS53795.1. [Q14CN4-3]
CCDS8833.1. [Q14CN4-1]
RefSeqiNP_001139697.1. NM_001146225.1. [Q14CN4-1]
NP_001139698.1. NM_001146226.1. [Q14CN4-3]
NP_542785.1. NM_080747.2. [Q14CN4-1]
UniGeneiHs.662013.

3D structure databases

ProteinModelPortaliQ14CN4.
SMRiQ14CN4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126715. 6 interactors.
IntActiQ14CN4. 14 interactors.
STRINGi9606.ENSP00000293745.

PTM databases

iPTMnetiQ14CN4.
PhosphoSitePlusiQ14CN4.
SwissPalmiQ14CN4.

Polymorphism and mutation databases

BioMutaiKRT72.
DMDMi166218813.

Proteomic databases

PaxDbiQ14CN4.
PeptideAtlasiQ14CN4.
PRIDEiQ14CN4.

Protocols and materials databases

DNASUi140807.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000293745; ENSP00000293745; ENSG00000170486. [Q14CN4-1]
ENST00000354310; ENSP00000346269; ENSG00000170486. [Q14CN4-3]
ENST00000537672; ENSP00000441160; ENSG00000170486. [Q14CN4-1]
GeneIDi140807.
KEGGihsa:140807.
UCSCiuc001saq.2. human. [Q14CN4-1]

Organism-specific databases

CTDi140807.
DisGeNETi140807.
GeneCardsiKRT72.
H-InvDBHIX0010656.
HGNCiHGNC:28932. KRT72.
MIMi608246. gene.
neXtProtiNX_Q14CN4.
OpenTargetsiENSG00000170486.
PharmGKBiPA147357719.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQKP. Eukaryota.
ENOG4111AD7. LUCA.
GeneTreeiENSGT00760000118796.
HOGENOMiHOG000230976.
HOVERGENiHBG013015.
InParanoidiQ14CN4.
KOiK07605.
OMAiSYSYKTA.
OrthoDBiEOG091G09KR.
PhylomeDBiQ14CN4.
TreeFamiTF317854.

Enzyme and pathway databases

ReactomeiR-HSA-6805567. Keratinization.
R-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GenomeRNAii140807.
PROiQ14CN4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170486.
CleanExiHS_KRT72.
ExpressionAtlasiQ14CN4. baseline and differential.
GenevisibleiQ14CN4. HS.

Family and domain databases

InterProiIPR001664. IF.
IPR018039. Intermediate_filament_CS.
IPR032444. Keratin_2_head.
IPR003054. Keratin_II.
[Graphical view]
PANTHERiPTHR23239. PTHR23239. 1 hit.
PfamiPF00038. Filament. 1 hit.
PF16208. Keratin_2_head. 1 hit.
[Graphical view]
PRINTSiPR01276. TYPE2KERATIN.
SMARTiSM01391. Filament. 1 hit.
[Graphical view]
PROSITEiPS00226. IF. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiK2C72_HUMAN
AccessioniPrimary (citable) accession number: Q14CN4
Secondary accession number(s): B4DEI8
, H9KV51, Q8NA87, Q8WWY9, Q8WWZ0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 30, 2016
This is version 102 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Miscellaneous

There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Caution

Was initially thought to be the ortholog of mouse KRT71.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.