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Q71F23 (CENPU_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Centromere protein U

Short name=CENP-U
Alternative name(s):
Centromere protein of 50 kDa
Short name=CENP-50
Interphase centromere complex protein 24
KSHV latent nuclear antigen-interacting protein 1
MLF1-interacting protein
Polo-box-interacting protein 1
Gene names
Name:CENPU
Synonyms:ICEN24, KLIP1, MLF1IP, PBIP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length418 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Plays an important role in the correct PLK1 localization to the mitotic kinetochores. A scaffold protein responsible for the initial recruitment and maintenance of the kinetochore PLK1 population until its degradation. Involved in transcriptional repression. Ref.1 Ref.10 Ref.13

Subunit structure

Component of the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU. The CENPA-NAC complex interacts with the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. Interacts with the N-terminal domain of Kaposi's sarcoma-associated herpesvirus latent nuclear antigen (LNA). Interacts with MLF1. Interacts with PLK1. Ref.1 Ref.2 Ref.11 Ref.12 Ref.13

Subcellular location

Cytoplasm. Nucleus. Chromosomecentromerekinetochore. Note: Localizes in the kinetochore domain of centromeres. Colocalizes with PLK1 at the interzone between the inner and the outer kinetochore plates. Ref.1 Ref.2 Ref.9 Ref.10 Ref.13

Tissue specificity

Expressed at high levels in the testis, fetal liver, thymus, bone marrow and at lower levels in the lymph nodes, placenta, colon and spleen. Present in all cell lines examined, including B-cells, T-cells, epithelial cells and fibroblast cells. Expressed at high levels in glioblastoma cell lines. Ref.1 Ref.2 Ref.9

Post-translational modification

Phosphorylated by PLK1 at Thr-78, creating a self-tethering site that specifically interacts with the polo-box domain of PLK1. Ref.13

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q71F23-1)

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: Q71F23-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-242: Missing.
Isoform 3 (identifier: Q71F23-3)

The sequence of this isoform differs from the canonical sequence as follows:
     331-337: EPQLKQL → WTGAGLW
     338-418: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 418418Centromere protein U
PRO_0000247672

Regions

Coiled coil297 – 35660 Potential
Coiled coil397 – 41721 Potential
Motif6 – 2318Nuclear localization signal Potential
Motif303 – 32018Nuclear localization signal Potential

Amino acid modifications

Modified residue781Phosphothreonine; by PLK1 Ref.13
Modified residue1101Phosphothreonine Ref.14
Modified residue1111Phosphoserine Ref.14 Ref.15
Modified residue1361Phosphoserine Ref.14
Modified residue1391Phosphoserine Ref.14
Modified residue1411Phosphoserine Ref.14
Modified residue1941Phosphoserine Ref.16

Natural variations

Alternative sequence1 – 242242Missing in isoform 2.
VSP_020030
Alternative sequence331 – 3377EPQLKQL → WTGAGLW in isoform 3.
VSP_053526
Alternative sequence338 – 41881Missing in isoform 3.
VSP_053527
Natural variant161G → R.
Corresponds to variant rs902174 [ dbSNP | Ensembl ].
VAR_048692
Natural variant161G → S.
Corresponds to variant rs902174 [ dbSNP | Ensembl ].
VAR_027144
Natural variant1571I → T.
Corresponds to variant rs6552804 [ dbSNP | Ensembl ].
VAR_027145
Natural variant2141I → M.
Corresponds to variant rs4616798 [ dbSNP | Ensembl ].
VAR_027146
Natural variant2791A → T.
Corresponds to variant rs34007339 [ dbSNP | Ensembl ].
VAR_048693

Experimental info

Mutagenesis771S → A: Insensitive to PLK1-induced degradation. Ref.13
Mutagenesis781T → A: Insensitive to PLK1-induced degradation. Ref.13
Mutagenesis781T → D: Failed to enhance the PLK1-dependent degradation. Ref.13
Mutagenesis781T → E: Failed to enhance the PLK1-dependent degradation. Ref.13
Sequence conflict1631E → G in AAI07745. Ref.8

Sequences

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

Last modified July 5, 2004. Version 1.
Checksum: A99BC012EF7188F9

FASTA41847,522
        10         20         30         40         50         60 
MAPRGRRRPR PHRSEGARRS KNTLERTHSM KDKAGQKCKP IDVFDFPDNS DVSSIGRLGE 

        70         80         90        100        110        120 
NEKDEETYET FDPPLHSTAI YADEEEFSKH CGLSLSSTPP GKEAKRSSDT SGNEASEIES 

       130        140        150        160        170        180 
VKISAKKPGR KLRPISDDSE SIEESDTRRK VKSAEKISTQ RHEVIRTTAS SELSEKPAES 

       190        200        210        220        230        240 
VTSKKTGPLS AQPSVEKENL AIESQSKTQK KGKISHDKRK KSRSKAIGSD TSDIVHIWCP 

       250        260        270        280        290        300 
EGMKTSDIKE LNIVLPEFEK THLEHQQRIE SKVCKAAIAT FYVNVKEQFI KMLKESQMLT 

       310        320        330        340        350        360 
NLKRKNAKMI SDIEKKRQRM IEVQDELLRL EPQLKQLQTK YDELKERKSS LRNAAYFLSN 

       370        380        390        400        410 
LKQLYQDYSD VQAQEPNVKE TYDSSSLPAL LFKARTLLGA ESHLRNINHQ LEKLLDQG 

« Hide

Isoform 2 [UniParc].

Checksum: C5731EE5F7ADCE1D
Show »

FASTA17620,710
Isoform 3 [UniParc].

Checksum: 24A4BBC85B3E98E1
Show »

FASTA33738,102

References

« Hide 'large scale' references
[1]"Identification of a novel cellular transcriptional repressor interacting with the latent nuclear antigen of Kaposi's sarcoma-associated herpesvirus."
Pan H.-Y., Zhang Y.-J., Wang X.-P., Deng J.-H., Zhou F.-C., Gao S.-J.
J. Virol. 77:9758-9768(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH KAPOSI'S SARCOMA-ASSOCIATED HERPESVIRUS LATENT NUCLEAR ANTIGEN.
[2]"cDNA cloning and characterization of a novel gene encoding the MLF1-interacting protein MLF1IP."
Hanissian S.H., Akbar U., Teng B., Janjetovic Z., Hoffmann A., Hitzler J.K., Iscove N., Hamre K., Du X., Tong Y., Mukatira S., Robertson J.H., Morris S.W.
Oncogene 23:3700-3707(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INTERACTION WITH MLF1.
[3]"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] (ISOFORM 2).
Tissue: Small intestine.
[4]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[5]"Role of alternatively spliced MLF1IP isoforms in brain tumor pathogenesis."
Hanissian S.H.
Submitted (AUG-2006) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Glioblastoma.
[6]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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] (ISOFORMS 1 AND 2).
Tissue: Adrenal cortex and Testis.
[9]"Regulation of myeloid leukemia factor-1 interacting protein (MLF1IP) expression in glioblastoma."
Hanissian S.H., Teng B., Akbar U., Janjetovic Z., Zhou Q., Duntsch C., Robertson J.H.
Brain Res. 1047:56-64(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[10]"Comprehensive analysis of the ICEN (Interphase Centromere Complex) components enriched in the CENP-A chromatin of human cells."
Izuta H., Ikeno M., Suzuki N., Tomonaga T., Nozaki N., Obuse C., Kisu Y., Goshima N., Nomura F., Nomura N., Yoda K.
Genes Cells 11:673-684(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[11]"The CENP-H-I complex is required for the efficient incorporation of newly synthesized CENP-A into centromeres."
Okada M., Cheeseman I.M., Hori T., Okawa K., McLeod I.X., Yates J.R. III, Desai A., Fukagawa T.
Nat. Cell Biol. 8:446-457(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH CENPH; CENPI; CENPK; CENPN; CENPO; CENPP; CENPQ AND CENPR.
[12]"The human CENP-A centromeric nucleosome-associated complex."
Foltz D.R., Jansen L.E.T., Black B.E., Bailey A.O., Yates J.R. III, Cleveland D.W.
Nat. Cell Biol. 8:458-469(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE CENPA-NAC COMPLEX WITH CENPA; CENPC; CENPH; CENPM; CENPN AND CENPT.
[13]"Self-regulated Plk1 recruitment to kinetochores by the Plk1-PBIP1 interaction is critical for proper chromosome segregation."
Kang Y.H., Park J.-E., Yu L.-R., Soung N.-K., Yun S.-M., Bang J.K., Seong Y.-S., Yu H., Garfield S., Veenstra T.D., Lee K.S.
Mol. Cell 24:409-422(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION, FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH PLK1, PHOSPHORYLATION AT THR-78, MUTAGENESIS OF SER-77 AND THR-78.
[14]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-110; SER-111; SER-136; SER-139 AND SER-141, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-111, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[16]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-194, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[17]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[18]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF469667 mRNA. Translation: AAQ05290.1.
AF516710 mRNA. Translation: AAQ08228.1.
AK027121 mRNA. Translation: BAB15665.1.
CR457376 mRNA. Translation: CAG33657.1.
DQ907910 mRNA. Translation: ABI49142.1.
AC079257 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04666.1.
BC107744 mRNA. Translation: AAI07745.1.
BC031520 mRNA. Translation: AAH31520.1.
BC131556 mRNA. Translation: AAI31557.1.
RefSeqNP_078905.2. NM_024629.3.
UniGeneHs.575032.

3D structure databases

ProteinModelPortalQ71F23.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122805. 32 interactions.
DIPDIP-48539N.
IntActQ71F23. 12 interactions.
MINTMINT-4992596.
STRING9606.ENSP00000281453.

PTM databases

PhosphoSiteQ71F23.

Polymorphism databases

DMDM74712714.

Proteomic databases

PaxDbQ71F23.
PRIDEQ71F23.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000281453; ENSP00000281453; ENSG00000151725. [Q71F23-1]
ENST00000541971; ENSP00000445862; ENSG00000151725. [Q71F23-3]
GeneID79682.
KEGGhsa:79682.
UCSCuc003iwq.3. human. [Q71F23-1]

Organism-specific databases

CTD79682.
GeneCardsGC04M185615.
HGNCHGNC:21348. CENPU.
HPAHPA022048.
MIM611511. gene.
neXtProtNX_Q71F23.
PharmGKBPA134893791.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45595.
HOGENOMHOG000236255.
HOVERGENHBG081090.
InParanoidQ71F23.
KOK11513.
OMALGENEKD.
OrthoDBEOG7PS1FG.
PhylomeDBQ71F23.
TreeFamTF330780.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.
REACT_21300. Mitotic M-M/G1 phases.

Gene expression databases

ArrayExpressQ71F23.
BgeeQ71F23.
CleanExHS_MLF1IP.
GenevestigatorQ71F23.

Family and domain databases

InterProIPR025214. CENP-U.
[Graphical view]
PANTHERPTHR32222:SF0. PTHR32222:SF0. 1 hit.
PfamPF13097. CENP-U. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMLF1IP.
GenomeRNAi79682.
NextBio68934.
PROQ71F23.
SOURCESearch...

Entry information

Entry nameCENPU_HUMAN
AccessionPrimary (citable) accession number: Q71F23
Secondary accession number(s): A2RRD9 expand/collapse secondary AC list , Q09GN2, Q32Q71, Q9H5G1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 5, 2004
Last modified: April 16, 2014
This is version 87 of the entry and version 1 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

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 4

Human chromosome 4: entries, gene names and cross-references to MIM