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Q9NZC4

- EHF_HUMAN

UniProt

Q9NZC4 - EHF_HUMAN

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Protein

ETS homologous factor

Gene

EHF

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

Functioni

Transcriptional activator that may play a role in regulating epithelial cell differentiation and proliferation. May act as a repressor for a specific subset of ETS/AP-1-responsive genes and as a modulator of the nuclear response to mitogen-activated protein kinase signaling cascades. Binds to DNA sequences containing the consensus nucleotide core sequence GGAA. Involved in regulation of TNFRSF10B/DR5 expression through Ets-binding sequences on the TNFRSF10B/DR5 promoter. May contribute to development and carcinogenesis by acting as a tumor suppressor gene or anti-oncogene.5 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi207 – 28983ETSPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  3. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB
  4. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: RefGenome
  5. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. cell proliferation Source: UniProtKB
  2. epithelial cell differentiation Source: UniProtKB
  3. multicellular organismal development Source: UniProtKB
  4. positive regulation of transcription, DNA-templated Source: UniProtKB
  5. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  6. regulation of transcription from RNA polymerase II promoter Source: RefGenome
  7. transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
ETS homologous factor
Short name:
hEHF
Alternative name(s):
ETS domain-containing transcription factor
Epithelium-specific Ets transcription factor 3
Short name:
ESE-3
Gene namesi
Name:EHFImported
Synonyms:ESE3, ESE3BImported, ESEJImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:3246. EHF.

Subcellular locationi

Nucleus 2 PublicationsPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27681.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 300300ETS homologous factorPRO_0000257969Add
BLAST

Proteomic databases

MaxQBiQ9NZC4.
PaxDbiQ9NZC4.
PRIDEiQ9NZC4.

PTM databases

PhosphoSiteiQ9NZC4.

Expressioni

Tissue specificityi

Expressed exclusively in tissues with a high content of epithelial cells. Highly expressed in salivary gland, mammary gland, prostate, and lung. Weakly expressed in kidney and colon. Not detected in heart, brain, placenta, liver, skeletal muscle, spleen, thymus, testis, ovary, small intestine or peripheral blood leukocytes.4 Publications

Inductioni

By IL1B/interleukin-1 beta and TNF in bronchial smooth muscle cells and fibroblasts. By IL10/interleukin-10 and IFNG/IFN-gamma in monocyte-derived dendritic cells.2 Publications

Gene expression databases

BgeeiQ9NZC4.
CleanExiHS_EHF.
ExpressionAtlasiQ9NZC4. baseline and differential.
GenevestigatoriQ9NZC4.

Interactioni

Protein-protein interaction databases

BioGridi117675. 4 interactions.
IntActiQ9NZC4. 1 interaction.
MINTiMINT-8247463.
STRINGi9606.ENSP00000257831.

Structurei

3D structure databases

ProteinModelPortaliQ9NZC4.
SMRiQ9NZC4. Positions 40-111, 206-299.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini29 – 11587PNTPROSITE-ProRule annotationAdd
BLAST

Domaini

The PNT domain acts as a transcriptional activator.By similarity

Sequence similaritiesi

Belongs to the ETS family.Sequence Analysis
Contains 1 ETS DNA-binding domain.PROSITE-ProRule annotation
Contains 1 PNT (pointed) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG307806.
GeneTreeiENSGT00760000118996.
HOVERGENiHBG074143.
InParanoidiQ9NZC4.
KOiK17102.
OMAiVMNLNPG.
OrthoDBiEOG7M0NRR.
PhylomeDBiQ9NZC4.
TreeFamiTF318679.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
1.10.150.50. 1 hit.
InterProiIPR000418. Ets_dom.
IPR003118. Pointed_dom.
IPR013761. SAM/pointed.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00178. Ets. 1 hit.
PF02198. SAM_PNT. 1 hit.
[Graphical view]
PRINTSiPR00454. ETSDOMAIN.
SMARTiSM00413. ETS. 1 hit.
SM00251. SAM_PNT. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS50061. ETS_DOMAIN_3. 1 hit.
PS51433. PNT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 13 Publications (identifier: Q9NZC4-1) [UniParc]FASTAAdd to Basket

Also known as: ESE-3B1 Publication

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
MILEGGGVMN LNPGNNLLHQ PPAWTDSYST CNVSSGFFGG QWHEIHPQYW
60 70 80 90 100
TKYQVWEWLQ HLLDTNQLDA NCIPFQEFDI NGEHLCSMSL QEFTRAAGTA
110 120 130 140 150
GQLLYSNLQH LKWNGQCSSD LFQSTHNVIV KTEQTEPSIM NTWKDENYLY
160 170 180 190 200
DTNYGSTVDL LDSKTFCRAQ ISMTTTSHLP VAESPDMKKE QDPPAKCHTK
210 220 230 240 250
KHNPRGTHLW EFIRDILLNP DKNPGLIKWE DRSEGVFRFL KSEAVAQLWG
260 270 280 290 300
KKKNNSSMTY EKLSRAMRYY YKREILERVD GRRLVYKFGK NARGWRENEN
Length:300
Mass (Da):34,892
Last modified:October 1, 2000 - v1
Checksum:i5CABB38BAF852ED0
GO
Isoform 21 Publication (identifier: Q9NZC4-2) [UniParc]FASTAAdd to Basket

Also known as: ESE-3A1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     159-181: Missing.

Show »
Length:277
Mass (Da):32,345
Checksum:i3BF620E8F1164811
GO
Isoform 3 (identifier: Q9NZC4-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGLPERRGLVLLLSLAEILFKIM

Note: No experimental confirmation available.

Show »
Length:322
Mass (Da):37,356
Checksum:i62D08E04E9C0FFDE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti40 – 401G → S in AAD30990. (PubMed:10644770)Curated
Sequence conflicti40 – 401G → S in AAD30991. (PubMed:10644770)Curated
Sequence conflicti163 – 1631S → G in AAD30991. (PubMed:10644770)Curated
Sequence conflicti169 – 1691A → V in AAD30991. (PubMed:10644770)Curated
Sequence conflicti196 – 1961K → E in AAF06998. (PubMed:10527851)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961A → V.
Corresponds to variant rs9804460 [ dbSNP | Ensembl ].
VAR_048941

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MGLPERRGLVLLLSLAEILF KIM in isoform 3. 1 PublicationVSP_046373
Alternative sequencei159 – 18123Missing in isoform 2. 1 PublicationVSP_052190Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF170583 mRNA. Translation: AAF06998.1.
AF124438 mRNA. Translation: AAD30990.1.
AF124439 mRNA. Translation: AAD30991.1.
AF212848 mRNA. Translation: AAF61670.1.
AF203977 mRNA. Translation: AAG35644.1.
AY882601 mRNA. Translation: AAW80658.1.
AK310867 mRNA. No translation available.
AC087783 Genomic DNA. No translation available.
AL157952 Genomic DNA. Translation: CAC12700.1.
AL157952 Genomic DNA. Translation: CAC12701.1.
CH471064 Genomic DNA. Translation: EAW68162.1.
CH471064 Genomic DNA. Translation: EAW68163.1.
CH471064 Genomic DNA. Translation: EAW68164.1.
CH471064 Genomic DNA. Translation: EAW68165.1.
CH471064 Genomic DNA. Translation: EAW68166.1.
BC038995 mRNA. Translation: AAH38995.1.
CCDSiCCDS55752.1. [Q9NZC4-3]
CCDS55753.1. [Q9NZC4-2]
CCDS7894.1. [Q9NZC4-1]
PIRiJC7115.
RefSeqiNP_001193544.1. NM_001206615.1. [Q9NZC4-2]
NP_001193545.1. NM_001206616.1. [Q9NZC4-3]
NP_036285.2. NM_012153.5. [Q9NZC4-1]
XP_005252917.1. XM_005252860.1. [Q9NZC4-1]
XP_005252919.1. XM_005252862.1. [Q9NZC4-2]
UniGeneiHs.653859.

Genome annotation databases

EnsembliENST00000257831; ENSP00000257831; ENSG00000135373. [Q9NZC4-1]
ENST00000450654; ENSP00000399733; ENSG00000135373. [Q9NZC4-2]
ENST00000530286; ENSP00000433508; ENSG00000135373. [Q9NZC4-1]
ENST00000531794; ENSP00000435835; ENSG00000135373. [Q9NZC4-3]
ENST00000533754; ENSP00000435837; ENSG00000135373. [Q9NZC4-1]
GeneIDi26298.
KEGGihsa:26298.
UCSCiuc001mvr.2. human. [Q9NZC4-1]
uc009yke.2. human. [Q9NZC4-2]

Polymorphism databases

DMDMi74762761.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF170583 mRNA. Translation: AAF06998.1 .
AF124438 mRNA. Translation: AAD30990.1 .
AF124439 mRNA. Translation: AAD30991.1 .
AF212848 mRNA. Translation: AAF61670.1 .
AF203977 mRNA. Translation: AAG35644.1 .
AY882601 mRNA. Translation: AAW80658.1 .
AK310867 mRNA. No translation available.
AC087783 Genomic DNA. No translation available.
AL157952 Genomic DNA. Translation: CAC12700.1 .
AL157952 Genomic DNA. Translation: CAC12701.1 .
CH471064 Genomic DNA. Translation: EAW68162.1 .
CH471064 Genomic DNA. Translation: EAW68163.1 .
CH471064 Genomic DNA. Translation: EAW68164.1 .
CH471064 Genomic DNA. Translation: EAW68165.1 .
CH471064 Genomic DNA. Translation: EAW68166.1 .
BC038995 mRNA. Translation: AAH38995.1 .
CCDSi CCDS55752.1. [Q9NZC4-3 ]
CCDS55753.1. [Q9NZC4-2 ]
CCDS7894.1. [Q9NZC4-1 ]
PIRi JC7115.
RefSeqi NP_001193544.1. NM_001206615.1. [Q9NZC4-2 ]
NP_001193545.1. NM_001206616.1. [Q9NZC4-3 ]
NP_036285.2. NM_012153.5. [Q9NZC4-1 ]
XP_005252917.1. XM_005252860.1. [Q9NZC4-1 ]
XP_005252919.1. XM_005252862.1. [Q9NZC4-2 ]
UniGenei Hs.653859.

3D structure databases

ProteinModelPortali Q9NZC4.
SMRi Q9NZC4. Positions 40-111, 206-299.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117675. 4 interactions.
IntActi Q9NZC4. 1 interaction.
MINTi MINT-8247463.
STRINGi 9606.ENSP00000257831.

PTM databases

PhosphoSitei Q9NZC4.

Polymorphism databases

DMDMi 74762761.

Proteomic databases

MaxQBi Q9NZC4.
PaxDbi Q9NZC4.
PRIDEi Q9NZC4.

Protocols and materials databases

DNASUi 26298.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000257831 ; ENSP00000257831 ; ENSG00000135373 . [Q9NZC4-1 ]
ENST00000450654 ; ENSP00000399733 ; ENSG00000135373 . [Q9NZC4-2 ]
ENST00000530286 ; ENSP00000433508 ; ENSG00000135373 . [Q9NZC4-1 ]
ENST00000531794 ; ENSP00000435835 ; ENSG00000135373 . [Q9NZC4-3 ]
ENST00000533754 ; ENSP00000435837 ; ENSG00000135373 . [Q9NZC4-1 ]
GeneIDi 26298.
KEGGi hsa:26298.
UCSCi uc001mvr.2. human. [Q9NZC4-1 ]
uc009yke.2. human. [Q9NZC4-2 ]

Organism-specific databases

CTDi 26298.
GeneCardsi GC11P034599.
HGNCi HGNC:3246. EHF.
MIMi 605439. gene.
neXtProti NX_Q9NZC4.
PharmGKBi PA27681.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG307806.
GeneTreei ENSGT00760000118996.
HOVERGENi HBG074143.
InParanoidi Q9NZC4.
KOi K17102.
OMAi VMNLNPG.
OrthoDBi EOG7M0NRR.
PhylomeDBi Q9NZC4.
TreeFami TF318679.

Miscellaneous databases

ChiTaRSi EHF. human.
GeneWikii EHF_(gene).
GenomeRNAii 26298.
NextBioi 48647.
PROi Q9NZC4.
SOURCEi Search...

Gene expression databases

Bgeei Q9NZC4.
CleanExi HS_EHF.
ExpressionAtlasi Q9NZC4. baseline and differential.
Genevestigatori Q9NZC4.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
1.10.150.50. 1 hit.
InterProi IPR000418. Ets_dom.
IPR003118. Pointed_dom.
IPR013761. SAM/pointed.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00178. Ets. 1 hit.
PF02198. SAM_PNT. 1 hit.
[Graphical view ]
PRINTSi PR00454. ETSDOMAIN.
SMARTi SM00413. ETS. 1 hit.
SM00251. SAM_PNT. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
PROSITEi PS50061. ETS_DOMAIN_3. 1 hit.
PS51433. PNT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human chromosomal localization, tissue/tumor expression, and regulatory function of the ets family gene EHF."
    Kleinbaum L.A., Duggan C., Ferreira E., Coffey G.P., Buttice G., Burton F.H.
    Biochem. Biophys. Res. Commun. 264:119-126(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY.
    Tissue: ProstateImported.
  2. "ESE-3, a novel member of an epithelium-specific ets transcription factor subfamily, demonstrates different target gene specificity from ESE-1."
    Kas K., Finger E., Grall F., Gu X., Akbarali Y., Boltax J., Weiss A., Oettgen P., Kapeller R., Libermann T.A.
    J. Biol. Chem. 275:2986-2998(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, TISSUE SPECIFICITY.
    Tissue: ProstateImported.
  3. "The epithelium-specific ETS protein EHF/ESE-3 is a context-dependent transcriptional repressor downstream of MAPK signaling cascades."
    Tugores A., Le J., Sorokina I., Snijders A.J., Duyao M., Reddy P.S., Carlee L., Ronshaugen M., Mushegian A., Watanaskul T., Chu S., Buckler A., Emtage S., McCormick M.K.
    J. Biol. Chem. 276:20397-20406(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  4. "Up-regulation of the epithelial-specific transcription factor Genes hEHF and ESX in advanced prostate cancer."
    Mitchell S.C., Levin E., Hubert R., Yeramian C., Saffran D.C., Afar D.E.H.
    Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  5. "New human ESE3B coding sequence from H441 cells."
    Lei W., Harrod K.S.
    Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  6. "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] (ISOFORM 3).
    Tissue: Trachea.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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: SkinImported.
  10. Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION.
  11. "ESE-3 transcription factor is involved in the expression of death receptor (DR)-5 through putative Ets sites."
    Lim J.H., Cho J.-Y., Park Y.B., Park J.-W., Kwon T.K.
    Biochem. Biophys. Res. Commun. 350:736-741(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  12. "Epithelial-specific transcription factor ESE-3 is involved in the development of monocyte-derived DCs."
    Appel S., Bringmann A., Grunebach F., Weck M.M., Bauer J., Brossart P.
    Blood 107:3265-3270(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.

Entry informationi

Entry nameiEHF_HUMAN
AccessioniPrimary (citable) accession number: Q9NZC4
Secondary accession number(s): D3DR08
, D3DR10, E9PSB2, Q9H509, Q9UKF9, Q9Y5V4, Q9Y5V5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 117 of the entry and version 1 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 11
    Human chromosome 11: 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