Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q9UHC7 (MKRN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
E3 ubiquitin-protein ligase makorin-1

EC=6.3.2.-
Alternative name(s):
RING finger protein 61
Gene names
Name:MKRN1
Synonyms:RNF61
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length482 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription. Ref.12 Ref.14

Pathway

Protein modification; protein ubiquitination.

Subunit structure

Interacts with p53/TP53 and CDKN1A. Interacts with TERT, modulating telomere length homeostasis. Ref.11 Ref.14

Tissue specificity

Ubiquitous. Ref.1 Ref.12

Induction

Frequently induced in esophageal squamous cell carcinoma (SCC) tissues. Ref.13

Post-translational modification

Auto-ubiquitinated; which leads to proteasomal degradation.

Sequence similarities

Contains 4 C3H1-type zinc fingers.

Contains 1 RING-type zinc finger.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CDKN1AP389365EBI-373524,EBI-375077
TP53P046378EBI-373524,EBI-366083

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UHC7-1)

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.
Isoform 2 (identifier: Q9UHC7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-64: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9UHC7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     366-412: SNKACRYFDE...QKVGTSSRYR → RYEHCSLFSS...DFPGQFILSP
     413-482: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q9UHC7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     330-482: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 482482E3 ubiquitin-protein ligase makorin-1
PRO_0000055952

Regions

Zinc finger55 – 8228C3H1-type 1
Zinc finger84 – 11128C3H1-type 2
Zinc finger208 – 23528C3H1-type 3
Zinc finger281 – 33555RING-type
Zinc finger364 – 39330C3H1-type 4
Region236 – 26328Makorin-type Cys-His

Natural variations

Alternative sequence1 – 6464Missing in isoform 2.
VSP_040361
Alternative sequence330 – 482153Missing in isoform 4.
VSP_040362
Alternative sequence366 – 41247SNKAC…SSRYR → RYEHCSLFSSEEPNRAWVHF EKNGAALYTPTSFLPFFDFP GQFILSP in isoform 3.
VSP_040363
Alternative sequence413 – 48270Missing in isoform 3.
VSP_040364
Natural variant2431V → L. Ref.1 Ref.5 Ref.9
Corresponds to variant rs2272095 [ dbSNP | Ensembl ].
VAR_012161
Natural variant4391V → A.
Corresponds to variant rs1062786 [ dbSNP | Ensembl ].
VAR_057214

Experimental info

Mutagenesis3071H → E: Loss of E3 ligase activity, but no effect on transcription regulation. Ref.11
Sequence conflict1491A → R in AAF17214. Ref.3
Sequence conflict1971K → E in BAG54426. Ref.5
Sequence conflict274 – 2752QR → S in AAF17214. Ref.3
Sequence conflict395 – 3962GR → AG in AAF17487. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 7, 2005. Version 3.
Checksum: AE8FAF010A5CDFC0

FASTA48253,349
        10         20         30         40         50         60 
MAEAATPGTT ATTSGAGAAA ATAAAASPTP IPTVTAPSLG AGGGGGGSDG SGGGWTKQVT 

        70         80         90        100        110        120 
CRYFMHGVCK EGDNCRYSHD LSDSPYSVVC KYFQRGYCIY GDRCRYEHSK PLKQEEATAT 

       130        140        150        160        170        180 
ELTTKSSLAA SSSLSSIVGP LVEMNTGEAE SRNSNFATVG AGSEDWVNAI EFVPGQPYCG 

       190        200        210        220        230        240 
RTAPSCTEAP LQGSVTKEES EKEQTAVETK KQLCPYAAVG ECRYGENCVY LHGDSCDMCG 

       250        260        270        280        290        300 
LQVLHPMDAA QRSQHIKSCI EAHEKDMELS FAVQRSKDMV CGICMEVVYE KANPSERRFG 

       310        320        330        340        350        360 
ILSNCNHTYC LKCIRKWRSA KQFESKIIKS CPECRITSNF VIPSEYWVEE KEEKQKLILK 

       370        380        390        400        410        420 
YKEAMSNKAC RYFDEGRGSC PFGGNCFYKH AYPDGRREEP QRQKVGTSSR YRAQRRNHFW 

       430        440        450        460        470        480 
ELIEERENSN PFDNDEEEVV TFELGEMLLM LLAAGGDDEL TDSEDEWDLF HDELEDFYDL 


DL 

« Hide

Isoform 2 [UniParc].

Checksum: 6423024B2BCEF41A
Show »

FASTA41847,639
Isoform 3 [UniParc].

Checksum: C3A472C85E91F480
Show »

FASTA41245,020
Isoform 4 [UniParc].

Checksum: 5F8EE84A4F929F6A
Show »

FASTA32935,224

References

« Hide 'large scale' references
[1]"The ancient source of a distinct gene family encoding proteins featuring RING and C(3)H zinc-finger motifs with abundant expression in developing brain and nervous system."
Gray T.A., Hernandez L., Carey A.H., Schaldach M.A., Smithwick M.J., Rus K., Marshall Graves J.A., Stewart C.L., Nicholls R.D.
Genomics 66:76-86(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT LEU-243, TISSUE SPECIFICITY.
[2]"Role of trans-acting factors in the subcellular transport of vasopressin mRNA."
Miroci H., Mohr E.
Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
Tissue: Brain.
[3]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Adrenal gland.
[4]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[5]"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. expand/collapse author list , 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), VARIANT LEU-243.
Tissue: Brain and Placenta.
[6]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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), VARIANT LEU-243.
Tissue: Brain and Skin.
[10]"Homo sapiens protein coding cDNA."
Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-452 (ISOFORM 3).
Tissue: Brain.
[11]"Ubiquitin ligase MKRN1 modulates telomere length homeostasis through a proteolysis of hTERT."
Kim J.H., Park S.-M., Kang M.R., Oh S.-Y., Lee T.H., Muller M.T., Chung I.K.
Genes Dev. 19:776-781(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: MUTAGENESIS OF HIS-307, UBIQUITINATION, INTERACTION WITH TERT.
[12]"Makorin RING finger protein 1 (MKRN1) has negative and positive effects on RNA polymerase II-dependent transcription."
Omwancha J., Zhou X.-F., Chen S.-Y., Baslan T., Fisher C.J., Zheng Z., Cai C., Shemshedini L.
Endocrine 29:363-373(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, TISSUE SPECIFICITY.
[13]"Identification of Makorin 1 as a novel SEREX antigen of esophageal squamous cell carcinoma."
Shimada H., Shiratori T., Yasuraoka M., Kagaya A., Kuboshima M., Nomura F., Takiguchi M., Ochiai T., Matsubara H., Hiwasa T.
BMC Cancer 9:232-232(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION.
[14]"Differential regulation of p53 and p21 by MKRN1 E3 ligase controls cell cycle arrest and apoptosis."
Lee E.-W., Lee M.-S., Camus S., Ghim J., Yang M.-R., Oh W., Ha N.-C., Lane D.P., Song J.
EMBO J. 28:2100-2113(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH TP53 AND CDKN1A.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF192784 mRNA. Translation: AAF17487.1.
AF192793 expand/collapse EMBL AC list , AF192789, AF192790, AF192791, AF192792 Genomic DNA. Translation: AAF18979.1.
AM236048 mRNA. Translation: CAJ84705.1.
AF117233 mRNA. Translation: AAF17214.1.
AL136812 mRNA. Translation: CAB66746.1.
AK127030 mRNA. Translation: BAG54426.1.
AK315552 mRNA. Translation: BAG37929.1.
AC069335 Genomic DNA. No translation available.
CH236950 Genomic DNA. Translation: EAL24026.1.
CH471070 Genomic DNA. Translation: EAW83949.1.
BC025955 mRNA. Translation: AAH25955.1.
BC037400 mRNA. Translation: AAH37400.1.
BC064838 mRNA. Translation: AAH64838.1.
AB209298 mRNA. Translation: BAD92535.1.
CCDSCCDS47725.1. [Q9UHC7-4]
CCDS5860.1. [Q9UHC7-1]
RefSeqNP_001138597.1. NM_001145125.1. [Q9UHC7-4]
NP_038474.2. NM_013446.3. [Q9UHC7-1]
UniGeneHs.744883.

3D structure databases

ProteinModelPortalQ9UHC7.
SMRQ9UHC7. Positions 277-344.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117141. 12 interactions.
IntActQ9UHC7. 12 interactions.
MINTMINT-1365598.
STRING9606.ENSP00000255977.

PTM databases

PhosphoSiteQ9UHC7.

Polymorphism databases

DMDM67477468.

Proteomic databases

MaxQBQ9UHC7.
PaxDbQ9UHC7.
PRIDEQ9UHC7.

Protocols and materials databases

DNASU23608.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000255977; ENSP00000255977; ENSG00000133606. [Q9UHC7-1]
ENST00000443720; ENSP00000416369; ENSG00000133606. [Q9UHC7-4]
ENST00000474576; ENSP00000417863; ENSG00000133606. [Q9UHC7-2]
GeneID23608.
KEGGhsa:23608.
UCSCuc003vvs.2. human. [Q9UHC7-1]

Organism-specific databases

CTD23608.
GeneCardsGC07M140152.
HGNCHGNC:7112. MKRN1.
HPAHPA000567.
MIM607754. gene.
neXtProtNX_Q9UHC7.
PharmGKBPA30831.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5084.
HOVERGENHBG066965.
InParanoidQ9UHC7.
KOK15687.
OMAYQRGCCA.
OrthoDBEOG79W95Q.
PhylomeDBQ9UHC7.
TreeFamTF315108.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.
UniPathwayUPA00143.

Gene expression databases

ArrayExpressQ9UHC7.
BgeeQ9UHC7.
CleanExHS_MKRN1.
GenevestigatorQ9UHC7.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
4.10.1000.10. 3 hits.
InterProIPR026290. Makorin-related.
IPR018957. Znf_C3HC4_RING-type.
IPR000571. Znf_CCCH.
IPR001841. Znf_RING.
IPR013083. Znf_RING/FYVE/PHD.
IPR017907. Znf_RING_CS.
[Graphical view]
PANTHERPTHR11224:SF37. PTHR11224:SF37. 1 hit.
PfamPF00097. zf-C3HC4. 1 hit.
PF00642. zf-CCCH. 3 hits.
[Graphical view]
SMARTSM00184. RING. 1 hit.
SM00356. ZnF_C3H1. 4 hits.
[Graphical view]
PROSITEPS50103. ZF_C3H1. 4 hits.
PS00518. ZF_RING_1. 1 hit.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi23608.
NextBio46308.
PROQ9UHC7.
SOURCESearch...

Entry information

Entry nameMKRN1_HUMAN
AccessionPrimary (citable) accession number: Q9UHC7
Secondary accession number(s): A4D1T7 expand/collapse secondary AC list , B3KXB4, Q256Y7, Q59G11, Q6GSF1, Q9H0G0, Q9UEZ7, Q9UHW2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: June 7, 2005
Last modified: July 9, 2014
This is version 128 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM