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Q96KG9 (NTKL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
N-terminal kinase-like protein
Alternative name(s):
Coated vesicle-associated kinase of 90 kDa
SCY1-like protein 1
Telomerase regulation-associated protein
Telomerase transcriptional element-interacting factor
Teratoma-associated tyrosine kinase
Gene names
Name:SCYL1
Synonyms:CVAK90, GKLP, NTKL, TAPK, TEIF, TRAP
ORF Names:HT019
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length808 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Regulates COPI-mediated retrograde traffic. Has no detectable kinase activity in vitro. Ref.8 Ref.11

Isoform 6 acts as transcriptional activator. It binds to three different types of GC-rich DNA binding sites (box-A, -B and -C) in the beta-polymerase promoter region. It also binds to the TERT promoter region. Ref.8 Ref.11

Subunit structure

Interacts with GORAB. Interacts with COPA, COPB1 and COPB2 By similarity. Homooligomer. Interacts with AP2B1. Ref.1 Ref.10

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Endoplasmic reticulum-Golgi intermediate compartment. Golgi apparatuscis-Golgi network. Note: Localized to the Endoplasmic reticulum-Golgi intermediate and cis-Golgi in an ARF1-independent manner. Ref.2 Ref.11

Isoform 1: Cytoplasm. Note: Cytoplasmic throughout the cell cycle. Ref.2 Ref.11

Isoform 2: Cytoplasm. Note: Cytoplasmic throughout the cell cycle. Ref.2 Ref.11

Isoform 3: Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Note: Cytoplasmic during interphase and centrosomal during mitosis, it localizes to the centrosomes in a microtubule-independent manner. Ref.2 Ref.11

Isoform 6: Nucleus Ref.2 Ref.11.

Tissue specificity

Ubiquitous. Ref.1

Domain

The protein kinase domain is predicted to be catalytically inactive.

Sequence similarities

Belongs to the protein kinase superfamily.

Contains 3 HEAT repeats.

Contains 1 protein kinase domain.

Sequence caution

The sequence AAG09726.1 differs from that shown. Reason: Frameshift at positions 289 and 307.

The sequence AAG17902.1 differs from that shown. Reason: Frameshift at several positions.

Ontologies

Keywords
   Biological processER-Golgi transport
Transcription
Transcription regulation
Transport
   Cellular componentCytoplasm
Cytoskeleton
Golgi apparatus
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Repeat
   LigandDNA-binding
   Molecular functionActivator
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processpeptidyl-tyrosine phosphorylation

Non-traceable author statement Ref.6. Source: GOC

regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

retrograde vesicle-mediated transport, Golgi to ER

Inferred from direct assay Ref.11. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentCOPI vesicle coat

Inferred from direct assay Ref.11. Source: UniProtKB

Golgi apparatus

Inferred from direct assay Ref.11. Source: UniProtKB

cis-Golgi network

Inferred from direct assay Ref.11. Source: UniProtKB

cytoplasm

Inferred from sequence or structural similarity PubMed 12783284. Source: HGNC

endoplasmic reticulum-Golgi intermediate compartment

Inferred from direct assay Ref.11. Source: UniProtKB

microtubule organizing center

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionATP binding

Inferred from electronic annotation. Source: InterPro

DNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein tyrosine kinase activity

Non-traceable author statement Ref.6. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96KG9-1)

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: Q96KG9-2)

Also known as: Variant 1;

The sequence of this isoform differs from the canonical sequence as follows:
     606-622: Missing.
Isoform 3 (identifier: Q96KG9-3)

Also known as: Variant 2;

The sequence of this isoform differs from the canonical sequence as follows:
     606-622: Missing.
     628-711: Missing.
Note: Non-canonical splice junctions.
Isoform 4 (identifier: Q96KG9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     750-808: PRPDSWGEDN...PMKLGARKLD → DRSRLSWPGRSARSGGGRWRPNAPRGRWPRAP
Isoform 5 (identifier: Q96KG9-5)

The sequence of this isoform differs from the canonical sequence as follows:
     603-626: TPEGVPAPAPTPVPATPTTSGHWE → SRPARRPLGDAGGGQGHSRGQQHC
     627-808: Missing.
Isoform 6 (identifier: Q96KG9-6)

The sequence of this isoform differs from the canonical sequence as follows:
     678-808: VSNSDHKSSK...PMKLGARKLD → SPTGAAGKLR...APRGRWPRAP

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 808808N-terminal kinase-like protein
PRO_0000249541

Regions

Domain14 – 314301Protein kinase
Repeat350 – 38839HEAT 1
Repeat389 – 42739HEAT 2
Repeat507 – 54539HEAT 3
Region793 – 80816Interaction with COPB1 By similarity
Coiled coil761 – 79737 Potential
Compositional bias589 – 61931Pro-rich

Amino acid modifications

Modified residue7541Phosphoserine Ref.9 Ref.12

Natural variations

Alternative sequence603 – 62624TPEGV…SGHWE → SRPARRPLGDAGGGQGHSRG QQHC in isoform 5.
VSP_020503
Alternative sequence606 – 62217Missing in isoform 2 and isoform 3.
VSP_020504
Alternative sequence627 – 808182Missing in isoform 5.
VSP_020505
Alternative sequence628 – 71184Missing in isoform 3.
VSP_020506
Alternative sequence678 – 808131VSNSD…ARKLD → SPTGAAGKLRAPGNRAGRSQ APRSHLLTVHGWPASITGVA QSPATRATPSLPCLHVPAPS RGQTLGVRTTGRASRLTVDR SRLSWPGRSARSGGGRWRPN APRGRWPRAP in isoform 6.
VSP_020507
Alternative sequence750 – 80859PRPDS…ARKLD → DRSRLSWPGRSARSGGGRWR PNAPRGRWPRAP in isoform 4.
VSP_020508
Natural variant4791P → L. Ref.14
Corresponds to variant rs55977709 [ dbSNP | Ensembl ].
VAR_041364
Natural variant4951H → Y in a metastatic melanoma sample; somatic mutation. Ref.14
VAR_041365
Natural variant6631Q → H. Ref.14
Corresponds to variant rs56076708 [ dbSNP | Ensembl ].
VAR_041366
Natural variant7551W → S. Ref.14
Corresponds to variant rs56077405 [ dbSNP | Ensembl ].
VAR_041367

Experimental info

Sequence conflict168 – 1692GN → AT in AAG17902. Ref.2
Sequence conflict5301I → F in AAG09726. Ref.7
Sequence conflict5741V → W in AAG09726. Ref.7

Sequences

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

Last modified December 1, 2001. Version 1.
Checksum: E87A2957DDCCE937

FASTA80889,631
        10         20         30         40         50         60 
MWFFARDPVR DFPFELIPEP PEGGLPGPWA LHRGRKKATG SPVSIFVYDV KPGAEEQTQV 

        70         80         90        100        110        120 
AKAAFKRFKT LRHPNILAYI DGLETEKCLH VVTEAVTPLG IYLKARVEAG GLKELEISWG 

       130        140        150        160        170        180 
LHQIVKALSF LVNDCSLIHN NVCMAAVFVD RAGEWKLGGL DYMYSAQGNG GGPPRKGIPE 

       190        200        210        220        230        240 
LEQYDPPELA DSSGRVVREK WSADMWRLGC LIWEVFNGPL PRAAALRNPG KIPKTLVPHY 

       250        260        270        280        290        300 
CELVGANPKV RPNPARFLQN CRAPGGFMSN RFVETNLFLE EIQIKEPAEK QKFFQELSKS 

       310        320        330        340        350        360 
LDAFPEDFCR HKVLPQLLTA FEFGNAGAVV LTPLFKVGKF LSAEEYQQKI IPVVVKMFSS 

       370        380        390        400        410        420 
TDRAMRIRLL QQMEQFIQYL DEPTVNTQIF PHVVHGFLDT NPAIREQTVK SMLLLAPKLN 

       430        440        450        460        470        480 
EANLNVELMK HFARLQAKDE QGPIRCNTTV CLGKIGSYLS ASTRHRVLTS AFSRATRDPF 

       490        500        510        520        530        540 
APSRVAGVLG FAATHNLYSM NDCAQKILPV LCGLTVDPEK SVRDQAFKAI RSFLSKLESV 

       550        560        570        580        590        600 
SEDPTQLEEV EKDVHAASSP GMGGAAASWA GWAVTGVSSL TSKLIRSHPT TAPTETNIPQ 

       610        620        630        640        650        660 
RPTPEGVPAP APTPVPATPT TSGHWETQEE DKDTAEDSST ADRWDDEDWG SLEQEAESVL 

       670        680        690        700        710        720 
AQQDDWSTGG QVSRASQVSN SDHKSSKSPE SDWSSWEAEG SWEQGWQEPS SQEPPPDGTR 

       730        740        750        760        770        780 
LASEYNWGGP ESSDKGDPFA TLSARPSTQP RPDSWGEDNW EGLETDSRQV KAELARKKRE 

       790        800 
ERRREMEAKR AERKVAKGPM KLGARKLD 

« Hide

Isoform 2 (Variant 1) [UniParc].

Checksum: 79A8FA462666CBC5
Show »

FASTA79188,089
Isoform 3 (Variant 2) [UniParc].

Checksum: 2F2C81CD4EAF8225
Show »

FASTA70778,696
Isoform 4 [UniParc].

Checksum: 7DC90CF2578622FE
Show »

FASTA78186,312
Isoform 5 [UniParc].

Checksum: 43E36C7298D8BB33
Show »

FASTA62669,238
Isoform 6 [UniParc].

Checksum: BD673D007B1A79B9
Show »

FASTA78786,371

References

« Hide 'large scale' references
[1]"Identification and characterization of the human protein kinase-like gene NTKL: mitosis-specific centrosomal localization of an alternatively spliced isoform."
Kato M., Yano K., Morotomi-Yano K., Saito H., Miki Y.
Genomics 79:760-767(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), SUBUNIT, TISSUE SPECIFICITY.
Tissue: Testis.
[2]"Molecular cloning and characterization of a human gene involved in transcriptional regulation of hTERT."
Tang Z., Zhao Y., Mei F., Yang S., Li X., Lv J., Hou L., Zhang B.
Biochem. Biophys. Res. Commun. 324:1324-1332(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), DNA-BINDING (ISOFORM 6), SUBCELLULAR LOCATION (ISOFORM 6).
Tissue: Cervix carcinoma.
[3]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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].
[5]"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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 310-808 (ISOFORM 4).
Tissue: Eye and Teratocarcinoma.
[6]"Construction of a 350-kb sequence-ready 11q13 cosmid contig encompassing the markers D11S4933 and D11S546: mapping of 11 genes and 3 tumor-associated translocation breakpoints."
van Asseldonk M., Schepens M., de Bruijn D., Janssen B., Merkx G., Geurts van Kessel A.
Genomics 66:35-42(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-283.
[7]Xiao H., Song H., Gao G., Ren S., Chen Z., Han Z.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 288-808 (ISOFORM 5).
Tissue: Hypothalamus.
[8]"Transcriptional upregulation of DNA polymerase beta by TEIF."
Zhao Y., Zheng J., Ling Y., Hou L., Zhang B.
Biochem. Biophys. Res. Commun. 333:908-916(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION (ISOFORM 6), DNA-BINDING (ISOFORM 6).
[9]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-754, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly."
Schmid E.M., Ford M.G.J., Burtey A., Praefcke G.J.K., Peak-Chew S.-Y., Mills I.G., Benmerah A., McMahon H.T.
PLoS Biol. 4:E262-E262(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH AP2B1.
[11]"Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic."
Burman J.L., Bourbonniere L., Philie J., Stroh T., Dejgaard S.Y., Presley J.F., McPherson P.S.
J. Biol. Chem. 283:22774-22786(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[12]"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-754, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[13]"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].
[14]"Patterns of somatic mutation in human cancer genomes."
Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. expand/collapse author list , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-479; TYR-495; HIS-663 AND SER-755.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB047077 mRNA. Translation: BAB55454.1.
AB051427 mRNA. Translation: BAB55458.1.
AB051428 mRNA. Translation: BAB55459.1.
AF297709 mRNA. Translation: AAG17902.1. Frameshift.
AP000769 Genomic DNA. No translation available.
CH471076 Genomic DNA. Translation: EAW74399.1.
BC009967 mRNA. Translation: AAH09967.2.
BC069233 mRNA. Translation: AAH69233.1.
AF255613 Genomic DNA. Translation: AAF81422.1.
AF225424 mRNA. Translation: AAG09726.1. Frameshift.
RefSeqNP_001041683.1. NM_001048218.1.
NP_065731.3. NM_020680.3.
XP_005274177.1. XM_005274120.1.
UniGeneHs.238839.

3D structure databases

ProteinModelPortalQ96KG9.
SMRQ96KG9. Positions 29-526.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121512. 10 interactions.
IntActQ96KG9. 9 interactions.
MINTMINT-3055065.
STRING9606.ENSP00000270176.

PTM databases

PhosphoSiteQ96KG9.

Polymorphism databases

DMDM74762671.

Proteomic databases

PaxDbQ96KG9.
PRIDEQ96KG9.

Protocols and materials databases

DNASU57410.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000270176; ENSP00000270176; ENSG00000142186. [Q96KG9-1]
ENST00000279270; ENSP00000279270; ENSG00000142186. [Q96KG9-4]
ENST00000420247; ENSP00000408192; ENSG00000142186. [Q96KG9-2]
ENST00000533862; ENSP00000437254; ENSG00000142186. [Q96KG9-6]
GeneID57410.
KEGGhsa:57410.
UCSCuc001oea.1. human. [Q96KG9-1]
uc001oeb.1. human. [Q96KG9-2]
uc001oec.1. human. [Q96KG9-6]
uc001oee.1. human. [Q96KG9-4]

Organism-specific databases

CTD57410.
GeneCardsGC11P065292.
HGNCHGNC:14372. SCYL1.
HPAHPA015015.
MIM607982. gene.
neXtProtNX_Q96KG9.
PharmGKBPA31812.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG293900.
HOVERGENHBG082065.
InParanoidQ96KG9.
KOK08876.
OMAGANPRVR.
OrthoDBEOG7RJPQX.
PhylomeDBQ96KG9.
TreeFamTF313435.

Enzyme and pathway databases

SignaLinkQ96KG9.

Gene expression databases

ArrayExpressQ96KG9.
BgeeQ96KG9.
CleanExHS_SCYL1.
GenevestigatorQ96KG9.

Family and domain databases

Gene3D1.25.10.10. 1 hit.
InterProIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
[Graphical view]
PfamPF00069. Pkinase. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEPS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSCYL1. human.
GeneWikiSCYL1.
GenomeRNAi57410.
NextBio63536.
PROQ96KG9.
SOURCESearch...

Entry information

Entry nameNTKL_HUMAN
AccessionPrimary (citable) accession number: Q96KG9
Secondary accession number(s): A6NJF1 expand/collapse secondary AC list , Q96G50, Q96KG8, Q96KH1, Q9HAW5, Q9HBL3, Q9NR53
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: December 1, 2001
Last modified: April 16, 2014
This is version 115 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

SIMILARITY comments

Index of protein domains and families

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

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 11

Human chromosome 11: entries, gene names and cross-references to MIM