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Q9UHC1 (MLH3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DNA mismatch repair protein Mlh3
Alternative name(s):
MutL protein homolog 3
Gene names
Name:MLH3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1453 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably involved in the repair of mismatches in DNA.

Subunit structure

Heterodimer of MLH1 and MLH3. Interacts with MTMR15/FAN1. Ref.2 Ref.7

Subcellular location

Nucleus Potential.

Tissue specificity

Ubiquitous.

Involvement in disease

Hereditary non-polyposis colorectal cancer 7 (HNPCC7) [MIM:614385]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the DNA mismatch repair MutL/HexB family.

Sequence caution

The sequence AAC42005.1 differs from that shown. Reason: Frameshift at several positions.

The sequence AAC42005.1 differs from that shown. Reason: Contaminating sequence. Sequence of unknown origin in the N-terminal part.

Ontologies

Keywords
   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Hereditary nonpolyposis colorectal cancer
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from Biological aspect of Ancestor. Source: GOC

female meiosis I

Inferred from electronic annotation. Source: Ensembl

male meiosis

Inferred from electronic annotation. Source: Ensembl

mismatch repair

Non-traceable author statement PubMed 12095912. Source: UniProtKB

protein localization

Inferred from electronic annotation. Source: Ensembl

reciprocal meiotic recombination

Non-traceable author statement PubMed 12095912. Source: UniProtKB

synaptonemal complex assembly

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentMutLbeta complex

Inferred from electronic annotation. Source: InterPro

chiasma

Inferred from Biological aspect of Ancestor. Source: RefGenome

male germ cell nucleus

Inferred from electronic annotation. Source: Ensembl

mismatch repair complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

nucleus

Traceable author statement Ref.1. Source: ProtInc

synaptonemal complex

Inferred from Biological aspect of Ancestor. Source: RefGenome

   Molecular_functionATP binding

Inferred from electronic annotation. Source: InterPro

ATPase activity

Inferred from Biological aspect of Ancestor. Source: RefGenome

centromeric DNA binding

Inferred from electronic annotation. Source: Ensembl

chromatin binding

Inferred from electronic annotation. Source: Ensembl

mismatched DNA binding

Inferred from electronic annotation. Source: InterPro

protein binding

Inferred from physical interaction Ref.7. Source: UniProtKB

satellite DNA binding

Traceable author statement Ref.1. Source: ProtInc

single-stranded DNA binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UHC1-1)

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: Q9UHC1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1215-1238: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14531453DNA mismatch repair protein Mlh3
PRO_0000178003

Natural variations

Alternative sequence1215 – 123824Missing in isoform 2.
VSP_003290
Natural variant241Q → E in HNPCC7. Ref.8
Corresponds to variant rs28937870 [ dbSNP | Ensembl ].
VAR_012946
Natural variant931R → G. Ref.3
Corresponds to variant rs28756978 [ dbSNP | Ensembl ].
VAR_023338
Natural variant1201F → S. Ref.3
Corresponds to variant rs28756979 [ dbSNP | Ensembl ].
VAR_023339
Natural variant2311K → Q. Ref.3
Corresponds to variant rs28756981 [ dbSNP | Ensembl ].
VAR_023340
Natural variant4201V → I. Ref.3
Corresponds to variant rs28756982 [ dbSNP | Ensembl ].
VAR_023341
Natural variant4921L → V. Ref.3
Corresponds to variant rs28756983 [ dbSNP | Ensembl ].
VAR_023342
Natural variant4941H → R.
VAR_010790
Natural variant4991N → S in HNPCC7. Ref.8
Corresponds to variant rs28937871 [ dbSNP | Ensembl ].
VAR_012947
Natural variant6001R → Q. Ref.3
Corresponds to variant rs28756984 [ dbSNP | Ensembl ].
VAR_023343
Natural variant6061T → P. Ref.3
Corresponds to variant rs28756985 [ dbSNP | Ensembl ].
VAR_023344
Natural variant6241E → Q in HNPCC7. Ref.3 Ref.8
Corresponds to variant rs28756986 [ dbSNP | Ensembl ].
VAR_012948
Natural variant6471R → C in HNPCC7. Ref.3 Ref.8
Corresponds to variant rs28756987 [ dbSNP | Ensembl ].
VAR_012949
Natural variant7201Y → C. Ref.3
Corresponds to variant rs28756988 [ dbSNP | Ensembl ].
VAR_023345
Natural variant7231V → I. Ref.3
Corresponds to variant rs28756989 [ dbSNP | Ensembl ].
VAR_023346
Natural variant7411V → F. Ref.3
Corresponds to variant rs28756990 [ dbSNP | Ensembl ].
VAR_023347
Natural variant7971R → H. Ref.3
Corresponds to variant rs28756991 [ dbSNP | Ensembl ].
VAR_023348
Natural variant8171S → G in HNPCC7. Ref.8
VAR_012950
Natural variant8261N → D. Ref.1 Ref.2 Ref.3
Corresponds to variant rs175081 [ dbSNP | Ensembl ].
VAR_036781
Natural variant8441P → L. Ref.1 Ref.3
Corresponds to variant rs175080 [ dbSNP | Ensembl ].
VAR_023349
Natural variant8451S → G. Ref.3
Corresponds to variant rs28756992 [ dbSNP | Ensembl ].
VAR_023350
Natural variant9421T → I. Ref.3
Corresponds to variant rs17102999 [ dbSNP | Ensembl ].
VAR_023351
Natural variant9661S → P. Ref.3
Corresponds to variant rs17782839 [ dbSNP | Ensembl ].
VAR_023352
Natural variant9811G → S in HNPCC7. Ref.8
VAR_012951
Natural variant10071N → S in HNPCC7. Ref.8
VAR_012952
Natural variant10731D → N. Ref.3
Corresponds to variant rs28756993 [ dbSNP | Ensembl ].
VAR_023353
Natural variant11051D → E. Ref.3
Corresponds to variant rs28757008 [ dbSNP | Ensembl ].
VAR_023354
Natural variant11631G → D. Ref.3
Corresponds to variant rs28757011 [ dbSNP | Ensembl ].
VAR_023355
Natural variant13191G → R. Ref.3
VAR_023356
Natural variant13941A → T in HNPCC7. Ref.8
VAR_012953
Natural variant14511E → K in HNPCC7. Ref.8
Corresponds to variant rs28939071 [ dbSNP | Ensembl ].
VAR_012954

Sequences

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

Last modified January 11, 2011. Version 3.
Checksum: 3D063427457DB033

FASTA1,453163,711
        10         20         30         40         50         60 
MIKCLSVEVQ AKLRSGLAIS SLGQCVEELA LNSIDAEAKC VAVRVNMETF QVQVIDNGFG 

        70         80         90        100        110        120 
MGSDDVEKVG NRYFTSKCHS VQDLENPRFY GFRGEALANI ADMASAVEIS SKKNRTMKTF 

       130        140        150        160        170        180 
VKLFQSGKAL KACEADVTRA SAGTTVTVYN LFYQLPVRRK CMDPRLEFEK VRQRIEALSL 

       190        200        210        220        230        240 
MHPSISFSLR NDVSGSMVLQ LPKTKDVCSR FCQIYGLGKS QKLREISFKY KEFELSGYIS 

       250        260        270        280        290        300 
SEAHYNKNMQ FLFVNKRLVL RTKLHKLIDF LLRKESIICK PKNGPTSRQM NSSLRHRSTP 

       310        320        330        340        350        360 
ELYGIYVINV QCQFCEYDVC MEPAKTLIEF QNWDTLLFCI QEGVKMFLKQ EKLFVELSGE 

       370        380        390        400        410        420 
DIKEFSEDNG FSLFDATLQK RVTSDERSNF QEACNNILDS YEMFNLQSKA VKRKTTAENV 

       430        440        450        460        470        480 
NTQSSRDSEA TRKNTNDAFL YIYESGGPGH SKMTEPSLQN KDSSCSESKM LEQETIVASE 

       490        500        510        520        530        540 
AGENEKHKKS FLEHSSLENP CGTSLEMFLS PFQTPCHFEE SGQDLEIWKE STTVNGMAAN 

       550        560        570        580        590        600 
ILKNNRIQNQ PKRFKDATEV GCQPLPFATT LWGVHSAQTE KEKKKESSNC GRRNVFSYGR 

       610        620        630        640        650        660 
VKLCSTGFIT HVVQNEKTKS TETEHSFKNY VRPGPTRAQE TFGNRTRHSV ETPDIKDLAS 

       670        680        690        700        710        720 
TLSKESGQLP NKKNCRTNIS YGLENEPTAT YTMFSAFQEG SKKSQTDCIL SDTSPSFPWY 

       730        740        750        760        770        780 
RHVSNDSRKT DKLIGFSKPI VRKKLSLSSQ LGSLEKFKRQ YGKVENPLDT EVEESNGVTT 

       790        800        810        820        830        840 
NLSLQVEPDI LLKDKNRLEN SDVCKITTME HSDSDSSCQP ASHILNSEKF PFSKDEDCLE 

       850        860        870        880        890        900 
QQMPSLRESP MTLKELSLFN RKPLDLEKSS ESLASKLSRL KGSERETQTM GMMSRFNELP 

       910        920        930        940        950        960 
NSDSSRKDSK LCSVLTQDFC MLFNNKHEKT ENGVIPTSDS ATQDNSFNKN SKTHSNSNTT 

       970        980        990       1000       1010       1020 
ENCVISETPL VLPYNNSKVT GKDSDVLIRA SEQQIGSLDS PSGMLMNPVE DATGDQNGIC 

      1030       1040       1050       1060       1070       1080 
FQSEESKARA CSETEESNTC CSDWQRHFDV ALGRMVYVNK MTGLSTFIAP TEDIQAACTK 

      1090       1100       1110       1120       1130       1140 
DLTTVAVDVV LENGSQYRCQ PFRSDLVLPF LPRARAERTV MRQDNRDTVD DTVSSESLQS 

      1150       1160       1170       1180       1190       1200 
LFSEWDNPVF ARYPEVAVDV SSGQAESLAV KIHNILYPYR FTKGMIHSMQ VLQQVDNKFI 

      1210       1220       1230       1240       1250       1260 
ACLMSTKTEE NGEAGGNLLV LVDQHAAHER IRLEQLIIDS YEKQQAQGSG RKKLLSSTLI 

      1270       1280       1290       1300       1310       1320 
PPLEITVTEE QRRLLWCYHK NLEDLGLEFV FPDTSDSLVL VGKVPLCFVE REANELRRGR 

      1330       1340       1350       1360       1370       1380 
STVTKSIVEE FIREQLELLQ TTGGIQGTLP LTVQKVLASQ ACHGAIKFND GLSLQESCRL 

      1390       1400       1410       1420       1430       1440 
IEALSSCQLP FQCAHGRPSM LPLADIDHLE QEKQIKPNLT KLRKMAQAWR LFGKAECDTR 

      1450 
QSLQQSMPPC EPP 

« Hide

Isoform 2 [UniParc].

Checksum: D65538977F9D7AA4
Show »

FASTA1,429161,021

References

« Hide 'large scale' references
[1]"MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability."
Lipkin S.M., Wang V., Jacoby R., Banerjee-Basu S., Baxevanis A.D., Lynch H.T., Elliott R.M., Collins F.S.
Nat. Genet. 24:27-35(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], ALTERNATIVE SPLICING, VARIANTS ASP-826 AND LEU-844.
[2]"The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2."
Kondo E., Horii A., Fukushige S.
Nucleic Acids Res. 29:1695-1702(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH MLH1, VARIANT ASP-826.
[3]NIEHS SNPs program
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-93; SER-120; GLN-231; ILE-420; VAL-492; GLN-600; PRO-606; GLN-624; CYS-647; CYS-720; ILE-723; PHE-741; HIS-797; ASP-826; LEU-844; GLY-845; ILE-942; PRO-966; ASN-1073; GLU-1105; ASP-1163 AND ARG-1319.
[4]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease."
Sherrington R., Rogaev E.I., Liang Y., Rogaeva E.A., Levesque G., Ikeda M., Chi H., Lin C., Li G., Holman K., Tsuda T., Mar L., Foncin J.-F., Bruni A.C., Montesi M.P., Sorbi S., Rainero I., Pinessi L. expand/collapse author list , Nee L., Chumakov I., Pollen D., Brookes A., Sanseau P., Polinsky R.J., Wasco W., da Silva H.A.R., Haines J.L., Pericak-Vance M.A., Tanzi R.E., Roses A.D., Fraser P.E., Rommens J.M., St George-Hyslop P.H.
Nature 375:754-760(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1189-1453.
Tissue: Brain.
[6]"Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: evidence for somatic mutation in colorectal cancers."
Lipkin S.M., Wang V., Stoler D.L., Anderson G.R., Kirsch I., Hadley D., Lynch H.T., Collins F.S.
Hum. Mutat. 17:389-396(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SOMATIC COLORECTAL CANCER.
[7]"A genetic screen identifies FAN1, a Fanconi anemia-associated nuclease necessary for DNA interstrand crosslink repair."
Smogorzewska A., Desetty R., Saito T.T., Schlabach M., Lach F.P., Sowa M.E., Clark A.B., Kunkel T.A., Harper J.W., Colaiacovo M.P., Elledge S.J.
Mol. Cell 39:36-47(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH MTMR15.
[8]"A role for MLH3 in hereditary nonpolyposis colorectal cancer."
Wu Y., Berends M.J.W., Sijmons R.H., Mensink R.G.J., Verlind E., Kooi K.A., van der Sluis T., Kempinga C., van der Zee A.G.J., Hollema H., Buys C.H.C.M., Kleibeuker J.H., Hofstra R.M.W.
Nat. Genet. 29:137-138(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HNPCC7 GLU-24; SER-499; GLN-624; CYS-647; GLY-817; SER-981; SER-1007; THR-1394 AND LYS-1451.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF195657 mRNA. Translation: AAF23904.1.
AF195658 Genomic DNA. Translation: AAF23905.1.
AB039667 mRNA. Translation: BAA92353.1.
AY963685 Genomic DNA. Translation: AAX59030.1.
AL049780 Genomic DNA. No translation available.
L40399 mRNA. Translation: AAC42005.1. Sequence problems.
CCDSCCDS32123.1. [Q9UHC1-1]
CCDS9837.1. [Q9UHC1-2]
RefSeqNP_001035197.1. NM_001040108.1. [Q9UHC1-1]
XP_005267588.1. XM_005267531.2. [Q9UHC1-1]
XP_006720179.1. XM_006720116.1. [Q9UHC1-1]
UniGeneHs.436650.

3D structure databases

ProteinModelPortalQ9UHC1.
SMRQ9UHC1. Positions 1-269, 1219-1409.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117961. 6 interactions.
IntActQ9UHC1. 2 interactions.
STRING9606.ENSP00000348020.

PTM databases

PhosphoSiteQ9UHC1.

Polymorphism databases

DMDM317373417.

Proteomic databases

MaxQBQ9UHC1.
PaxDbQ9UHC1.
PRIDEQ9UHC1.

Protocols and materials databases

DNASU27030.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000238662; ENSP00000238662; ENSG00000119684. [Q9UHC1-2]
ENST00000355774; ENSP00000348020; ENSG00000119684. [Q9UHC1-1]
ENST00000556740; ENSP00000452316; ENSG00000119684. [Q9UHC1-1]
GeneID27030.
KEGGhsa:27030.
UCSCuc001xrd.1. human. [Q9UHC1-1]
uc001xre.1. human. [Q9UHC1-2]

Organism-specific databases

CTD27030.
GeneCardsGC14M075481.
GeneReviewsMLH3.
HGNCHGNC:7128. MLH3.
MIM114500. phenotype.
604395. gene.
614385. phenotype.
neXtProtNX_Q9UHC1.
Orphanet144. Hereditary nonpolyposis colon cancer.
PharmGKBPA30845.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0323.
HOGENOMHOG000140944.
HOVERGENHBG006375.
InParanoidQ9UHC1.
KOK08739.
OMAHGAIKFN.
OrthoDBEOG7B8S4F.
PhylomeDBQ9UHC1.
TreeFamTF329597.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressQ9UHC1.
BgeeQ9UHC1.
CleanExHS_MLH3.
GenevestigatorQ9UHC1.

Family and domain databases

Gene3D3.30.230.10. 1 hit.
3.30.565.10. 1 hit.
InterProIPR013507. DNA_mismatch_repair_C.
IPR014762. DNA_mismatch_repair_CS.
IPR003594. HATPase_ATP-bd.
IPR028830. Mlh3.
IPR014790. MutL_C.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PANTHERPTHR10073:SF7. PTHR10073:SF7. 1 hit.
PfamPF01119. DNA_mis_repair. 1 hit.
PF02518. HATPase_c. 1 hit.
PF08676. MutL_C. 1 hit.
[Graphical view]
SMARTSM00387. HATPase_c. 1 hit.
SM00853. MutL_C. 1 hit.
[Graphical view]
SUPFAMSSF54211. SSF54211. 1 hit.
SSF55874. SSF55874. 1 hit.
PROSITEPS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMLH3. human.
GeneWikiMLH3.
GenomeRNAi27030.
NextBio49558.
PROQ9UHC1.
SOURCESearch...

Entry information

Entry nameMLH3_HUMAN
AccessionPrimary (citable) accession number: Q9UHC1
Secondary accession number(s): P49751 expand/collapse secondary AC list , Q56DK9, Q9P292, Q9UHC0
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: January 11, 2011
Last modified: July 9, 2014
This is version 130 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

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 14

Human chromosome 14: entries, gene names and cross-references to MIM