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Q9HCJ1

- ANKH_HUMAN

UniProt

Q9HCJ1 - ANKH_HUMAN

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Protein

Progressive ankylosis protein homolog

Gene
ANKH, KIAA1581, UNQ241/PRO274
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.

GO - Molecular functioni

  1. inorganic diphosphate transmembrane transporter activity Source: UniProtKB
  2. inorganic phosphate transmembrane transporter activity Source: UniProtKB
  3. phosphate ion transmembrane transporter activity Source: InterPro

GO - Biological processi

  1. inorganic diphosphate transport Source: GOC
  2. locomotory behavior Source: UniProtKB
  3. regulation of bone mineralization Source: UniProtKB
  4. skeletal system development Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Phosphate transport, Transport

Protein family/group databases

TCDBi2.A.66.9.1. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Progressive ankylosis protein homolog
Short name:
ANK
Gene namesi
Name:ANKH
Synonyms:KIAA1581
ORF Names:UNQ241/PRO274
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:15492. ANKH.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 8585Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei86 – 10621Helical; Reviewed predictionAdd
BLAST
Topological domaini107 – 13125Extracellular Reviewed predictionAdd
BLAST
Transmembranei132 – 15221Helical; Reviewed predictionAdd
BLAST
Topological domaini153 – 1586Cytoplasmic Reviewed prediction
Transmembranei159 – 17921Helical; Reviewed predictionAdd
BLAST
Topological domaini180 – 18910Extracellular Reviewed prediction
Transmembranei190 – 21021Helical; Reviewed predictionAdd
BLAST
Topological domaini211 – 326116Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei327 – 34721Helical; Reviewed predictionAdd
BLAST
Topological domaini348 – 3503Extracellular Reviewed prediction
Transmembranei351 – 37121Helical; Reviewed predictionAdd
BLAST
Topological domaini372 – 40332Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei404 – 42623Helical; Reviewed predictionAdd
BLAST
Topological domaini427 – 4293Extracellular Reviewed prediction
Transmembranei430 – 45223Helical; Reviewed predictionAdd
BLAST
Topological domaini453 – 49240Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB
  2. integral component of plasma membrane Source: UniProtKB
  3. outer membrane Source: UniProtKB
  4. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Chondrocalcinosis 2 (CCAL2) [MIM:118600]: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51P → L in CCAL2. 1 Publication
VAR_022606
Natural varianti5 – 51P → T in CCAL2. 1 Publication
VAR_022607
Natural varianti48 – 481M → T in CCAL2. 1 Publication
VAR_017556
Natural varianti490 – 4901Missing in CCAL2; sporadic. 1 Publication
VAR_017557
Craniometaphyseal dysplasia, autosomal dominant (CMDD) [MIM:123000]: An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti292 – 2921W → R in CMDD. 1 Publication
VAR_012192
Natural varianti331 – 3311C → R in CMDD. 1 Publication
VAR_012193
Natural varianti375 – 3751Missing in CMDD. 2 Publications
VAR_012194
Natural varianti376 – 3761Missing in CMDD. 1 Publication
VAR_012195
Natural varianti377 – 3771Missing in CMDD. 1 Publication
VAR_012196
Natural varianti380 – 3801P → PA in CMDD. 2 Publications
VAR_012197
Natural varianti389 – 3891G → R in CMDD. 1 Publication
Corresponds to variant rs28939080 [ dbSNP | Ensembl ].
VAR_012198

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MIMi118600. phenotype.
123000. phenotype.
Orphaneti1522. Craniometaphyseal dysplasia.
1416. Familial calcium pyrophosphate deposition.
PharmGKBiPA24801.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 492492Progressive ankylosis protein homologPRO_0000137467Add
BLAST

Proteomic databases

MaxQBiQ9HCJ1.
PaxDbiQ9HCJ1.
PRIDEiQ9HCJ1.

PTM databases

PhosphoSiteiQ9HCJ1.

Expressioni

Tissue specificityi

Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells.

Gene expression databases

ArrayExpressiQ9HCJ1.
BgeeiQ9HCJ1.
CleanExiHS_ANKH.
GenevestigatoriQ9HCJ1.

Interactioni

Protein-protein interaction databases

BioGridi121103. 3 interactions.
IntActiQ9HCJ1. 1 interaction.
STRINGi9606.ENSP00000284268.

Structurei

3D structure databases

ProteinModelPortaliQ9HCJ1.

Family & Domainsi

Sequence similaritiesi

Belongs to the ANKH family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG19764.
HOGENOMiHOG000033943.
HOVERGENiHBG018728.
InParanoidiQ9HCJ1.
OMAiYMGVHGA.
OrthoDBiEOG7KH9JM.
PhylomeDBiQ9HCJ1.
TreeFamiTF333504.

Family and domain databases

InterProiIPR009887. ANKH.
[Graphical view]
PfamiPF07260. ANKH. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9HCJ1-1) [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

MVKFPALTHY WPLIRFLVPL GITNIAIDFG EQALNRGIAA VKEDAVEMLA    50
SYGLAYSLMK FFTGPMSDFK NVGLVFVNSK RDRTKAVLCM VVAGAIAAVF 100
HTLIAYSDLG YYIINKLHHV DESVGSKTRR AFLYLAAFPF MDAMAWTHAG 150
ILLKHKYSFL VGCASISDVI AQVVFVAILL HSHLECREPL LIPILSLYMG 200
ALVRCTTLCL GYYKNIHDII PDRSGPELGG DATIRKMLSF WWPLALILAT 250
QRISRPIVNL FVSRDLGGSS AATEAVAILT ATYPVGHMPY GWLTEIRAVY 300
PAFDKNNPSN KLVSTSNTVT AAHIKKFTFV CMALSLTLCF VMFWTPNVSE 350
KILIDIIGVD FAFAELCVVP LRIFSFFPVP VTVRAHLTGW LMTLKKTFVL 400
APSSVLRIIV LIASLVVLPY LGVHGATLGV GSLLAGFVGE STMVAIAACY 450
VYRKQKKKME NESATEGEDS AMTDMPPTEE VTDIVEMREE NE 492
Length:492
Mass (Da):54,241
Last modified:November 16, 2001 - v2
Checksum:i44BFEE9089BDEC6B
GO
Isoform 2 (identifier: Q9HCJ1-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-198: Missing.

Note: No experimental confirmation available.

Show »
Length:294
Mass (Da):32,259
Checksum:iED76E746015E449A
GO

Sequence cautioni

The sequence BAB13407.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51P → L in CCAL2. 1 Publication
VAR_022606
Natural varianti5 – 51P → T in CCAL2. 1 Publication
VAR_022607
Natural varianti48 – 481M → T in CCAL2. 1 Publication
VAR_017556
Natural varianti292 – 2921W → R in CMDD. 1 Publication
VAR_012192
Natural varianti331 – 3311C → R in CMDD. 1 Publication
VAR_012193
Natural varianti375 – 3751Missing in CMDD. 2 Publications
VAR_012194
Natural varianti376 – 3761Missing in CMDD. 1 Publication
VAR_012195
Natural varianti377 – 3771Missing in CMDD. 1 Publication
VAR_012196
Natural varianti380 – 3801P → PA in CMDD. 2 Publications
VAR_012197
Natural varianti389 – 3891G → R in CMDD. 1 Publication
Corresponds to variant rs28939080 [ dbSNP | Ensembl ].
VAR_012198
Natural varianti490 – 4901Missing in CCAL2; sporadic. 1 Publication
VAR_017557

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 198198Missing in isoform 2. VSP_055824Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti78 – 781N → S in AAF88039. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF274753 mRNA. Translation: AAF88039.1.
AB046801 mRNA. Translation: BAB13407.1. Different initiation.
AY358503 mRNA. Translation: AAQ88867.1.
AK001799 mRNA. Translation: BAG50976.1.
AC010491 Genomic DNA. No translation available.
AC016575 Genomic DNA. No translation available.
AC025456 Genomic DNA. No translation available.
AK315012 mRNA. Translation: BAG37504.1.
CH471102 Genomic DNA. Translation: EAX08034.1.
CH471102 Genomic DNA. Translation: EAX08035.1.
BC009835 mRNA. Translation: AAH09835.1.
BC014526 mRNA. Translation: AAH14526.1.
CCDSiCCDS3885.1.
RefSeqiNP_473368.1. NM_054027.4.
UniGeneiHs.156727.

Genome annotation databases

EnsembliENST00000284268; ENSP00000284268; ENSG00000154122.
ENST00000535119; ENSP00000442524; ENSG00000154122.
GeneIDi56172.
KEGGihsa:56172.
UCSCiuc003jfm.4. human.

Polymorphism databases

DMDMi17366849.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF274753 mRNA. Translation: AAF88039.1 .
AB046801 mRNA. Translation: BAB13407.1 . Different initiation.
AY358503 mRNA. Translation: AAQ88867.1 .
AK001799 mRNA. Translation: BAG50976.1 .
AC010491 Genomic DNA. No translation available.
AC016575 Genomic DNA. No translation available.
AC025456 Genomic DNA. No translation available.
AK315012 mRNA. Translation: BAG37504.1 .
CH471102 Genomic DNA. Translation: EAX08034.1 .
CH471102 Genomic DNA. Translation: EAX08035.1 .
BC009835 mRNA. Translation: AAH09835.1 .
BC014526 mRNA. Translation: AAH14526.1 .
CCDSi CCDS3885.1.
RefSeqi NP_473368.1. NM_054027.4.
UniGenei Hs.156727.

3D structure databases

ProteinModelPortali Q9HCJ1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121103. 3 interactions.
IntActi Q9HCJ1. 1 interaction.
STRINGi 9606.ENSP00000284268.

Protein family/group databases

TCDBi 2.A.66.9.1. the multidrug/oligosaccharidyl-lipid/polysaccharide (mop) flippase superfamily.

PTM databases

PhosphoSitei Q9HCJ1.

Polymorphism databases

DMDMi 17366849.

Proteomic databases

MaxQBi Q9HCJ1.
PaxDbi Q9HCJ1.
PRIDEi Q9HCJ1.

Protocols and materials databases

DNASUi 56172.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284268 ; ENSP00000284268 ; ENSG00000154122 .
ENST00000535119 ; ENSP00000442524 ; ENSG00000154122 .
GeneIDi 56172.
KEGGi hsa:56172.
UCSCi uc003jfm.4. human.

Organism-specific databases

CTDi 56172.
GeneCardsi GC05M014706.
GeneReviewsi ANKH.
HGNCi HGNC:15492. ANKH.
MIMi 118600. phenotype.
123000. phenotype.
605145. gene.
neXtProti NX_Q9HCJ1.
Orphaneti 1522. Craniometaphyseal dysplasia.
1416. Familial calcium pyrophosphate deposition.
PharmGKBi PA24801.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG19764.
HOGENOMi HOG000033943.
HOVERGENi HBG018728.
InParanoidi Q9HCJ1.
OMAi YMGVHGA.
OrthoDBi EOG7KH9JM.
PhylomeDBi Q9HCJ1.
TreeFami TF333504.

Miscellaneous databases

ChiTaRSi ANKH. human.
GeneWikii ANKH.
GenomeRNAii 56172.
NextBioi 61818.
PROi Q9HCJ1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9HCJ1.
Bgeei Q9HCJ1.
CleanExi HS_ANKH.
Genevestigatori Q9HCJ1.

Family and domain databases

InterProi IPR009887. ANKH.
[Graphical view ]
Pfami PF07260. ANKH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Role of the mouse ank gene in control of tissue calcification and arthritis."
    Ho A.M., Johnson M.D., Kingsley D.M.
    Science 289:265-270(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
    DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Cerebellum and Ovarian cancer.
  5. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 1).
    Tissue: Ovary.
  8. Cited for: VARIANTS CMDD SER-375 DEL; PHE-376 DEL AND ALA-380 INS.
  9. "Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia."
    Nuernberg P., Thiele H., Chandler D., Hoehne W., Cunningham M.L., Ritter H., Leschik G., Uhlmann K., Mischung C., Harrop K., Goldblatt J., Borochowitz Z.U., Kotzot D., Westermann F., Mundlos S., Braun H.-S., Laing N., Tinschert S.
    Nat. Genet. 28:37-41(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMDD ARG-292; ARG-331; SER-375 DEL; PHE-377 DEL; ALA-380 INS AND ARG-389.
  10. Cited for: VARIANTS CCAL2 THR-48 AND GLU-490 DEL.
  11. "Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH."
    Williams C.J., Zhang Y., Timms A., Bonavita G., Caeiro F., Broxholme J., Cuthbertson J., Jones Y., Marchegiani R., Reginato A., Russell R.G.G., Wordsworth B.P., Carr A.J., Brown M.A.
    Am. J. Hum. Genet. 71:985-991(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CCAL2 LEU-5.
  12. "Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease."
    Williams C.J., Pendleton A., Bonavita G., Reginato A.J., Hughes A.E., Peariso S., Doherty M., McCarty D.J., Ryan L.M.
    Arthritis Rheum. 48:2627-2631(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CCAL2 THR-5.

Entry informationi

Entry nameiANKH_HUMAN
AccessioniPrimary (citable) accession number: Q9HCJ1
Secondary accession number(s): B2RCA7
, B3KMG4, D3DTD4, Q9NQW2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 16, 2001
Last modified: September 3, 2014
This is version 118 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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

External Data

Dasty 3