Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9Y2Z9

- COQ6_HUMAN

UniProt

Q9Y2Z9 - COQ6_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Ubiquinone biosynthesis monooxygenase COQ6

Gene

COQ6

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

Functioni

Cofactori

FAD.Curated

Pathwayi

GO - Molecular functioni

  1. flavin adenine dinucleotide binding Source: InterPro
  2. oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen Source: InterPro

GO - Biological processi

  1. small molecule metabolic process Source: Reactome
  2. ubiquinone biosynthetic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Monooxygenase, Oxidoreductase

Keywords - Biological processi

Ubiquinone biosynthesis

Keywords - Ligandi

FAD, Flavoprotein

Enzyme and pathway databases

ReactomeiREACT_160111. Ubiquinol biosynthesis.
UniPathwayiUPA00232.

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquinone biosynthesis monooxygenase COQ6 (EC:1.14.13.-)
Alternative name(s):
Coenzyme Q10 monooxygenase 6
Gene namesi
Name:COQ6
ORF Names:CGI-10
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:20233. COQ6.

Subcellular locationi

Golgi apparatus. Cell projection By similarity
Note: Localizes to podocyte cell processes.By similarity

GO - Cellular componenti

  1. cell projection Source: UniProtKB-KW
  2. Golgi apparatus Source: UniProtKB-KW
  3. mitochondrion Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti255 – 2551G → R in COQ10D6. 1 Publication
VAR_068216
Natural varianti353 – 3531A → D in COQ10D6. 1 Publication
VAR_068218

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MIMi614650. phenotype.
Orphaneti280406. Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
PharmGKBiPA134940980.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 468468Ubiquinone biosynthesis monooxygenase COQ6PRO_0000207583Add
BLAST

Proteomic databases

MaxQBiQ9Y2Z9.
PaxDbiQ9Y2Z9.
PRIDEiQ9Y2Z9.

PTM databases

PhosphoSiteiQ9Y2Z9.

Expressioni

Tissue specificityi

Widely epressed.1 Publication

Gene expression databases

BgeeiQ9Y2Z9.
CleanExiHS_COQ6.
ExpressionAtlasiQ9Y2Z9. baseline.
GenevestigatoriQ9Y2Z9.

Organism-specific databases

HPAiHPA051371.

Interactioni

Subunit structurei

Interacts with ADCK4 and COQ7.1 Publication

Protein-protein interaction databases

BioGridi119212. 7 interactions.
IntActiQ9Y2Z9. 2 interactions.
MINTiMINT-1391142.
STRINGi9606.ENSP00000333946.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2Z9.
SMRiQ9Y2Z9. Positions 37-435.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UbiH/COQ6 family.Curated

Phylogenomic databases

eggNOGiCOG0654.
GeneTreeiENSGT00390000015152.
HOGENOMiHOG000255772.
HOVERGENiHBG029533.
InParanoidiQ9Y2Z9.
KOiK06126.
OMAiNSPVRKF.
OrthoDBiEOG7H793X.
PhylomeDBiQ9Y2Z9.
TreeFamiTF105772.

Family and domain databases

InterProiIPR002938. mOase_FAD-bd.
IPR003042. Rng_hydrolase-like.
IPR018168. Ubi_Hdrlase_CS.
IPR010971. Ubi_Hdrxlases.
IPR000689. UbQ_biosynth_mOase.
[Graphical view]
PfamiPF01494. FAD_binding_3. 2 hits.
[Graphical view]
PRINTSiPR00420. RNGMNOXGNASE.
TIGRFAMsiTIGR01989. COQ6. 1 hit.
TIGR01988. Ubi-OHases. 1 hit.
PROSITEiPS01304. UBIH. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y2Z9-1) [UniParc]FASTAAdd to Basket

Also known as: a

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
MAARLVSRCG AVRAAPHSGP LVSWRRWSGA STDTVYDVVV SGGGLVGAAM
60 70 80 90 100
ACALGYDIHF HDKKILLLEA GPKKVLEKLS ETYSNRVSSI SPGSATLLSS
110 120 130 140 150
FGAWDHICNM RYRAFRRMQV WDACSEALIM FDKDNLDDMG YIVENDVIMH
160 170 180 190 200
ALTKQLEAVS DRVTVLYRSK AIRYTWPCPF PMADSSPWVH ITLGDGSTFQ
210 220 230 240 250
TKLLIGADGH NSGVRQAVGI QNVSWNYDQS AVVATLHLSE ATENNVAWQR
260 270 280 290 300
FLPSGPIALL PLSDTLSSLV WSTSHEHAAE LVSMDEEKFV DAVNSAFWSD
310 320 330 340 350
ADHTDFIDTA GAMLQYAVSL LKPTKVSARQ LPPSVARVDA KSRVLFPLGL
360 370 380 390 400
GHAAEYVRPR VALIGDAAHR VHPLAGQGVN MGFGDISSLA HHLSTAAFNG
410 420 430 440 450
KDLGSVSHLT GYETERQRHN TALLAATDLL KRLYSTSASP LVLLRTWGLQ
460
ATNAVSPLKE QIMAFASK
Length:468
Mass (Da):50,870
Last modified:November 28, 2002 - v2
Checksum:i9613629BA501B60B
GO
Isoform 2 (identifier: Q9Y2Z9-2) [UniParc]FASTAAdd to Basket

Also known as: b

The sequence of this isoform differs from the canonical sequence as follows:
     2-119: AARLVSRCGA...MRYRAFRRMQ → IFTFMTRKSC...FPLALQRFSV
     460-461: Missing.

Show »
Length:391
Mass (Da):42,874
Checksum:iAC06474D2687E80E
GO
Isoform 3 (identifier: Q9Y2Z9-3) [UniParc]FASTAAdd to Basket

Also known as: c

The sequence of this isoform differs from the canonical sequence as follows:
     2-54: AARLVSRCGA...LVGAAMACAL → RGQGPPLSSFGVWLASRAASDPSRPRRQ

Show »
Length:443
Mass (Da):48,593
Checksum:i61F3E8B19575633D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti22 – 309VSWRRWSGA → AVLAQVVRR in AAD27719. (PubMed:10810093)Curated
Sequence conflicti317 – 3171A → P in AAD27719. (PubMed:10810093)Curated
Sequence conflicti336 – 3372AR → PW in AAD27719. (PubMed:10810093)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti255 – 2551G → R in COQ10D6. 1 Publication
VAR_068216
Natural varianti287 – 2871E → K.1 Publication
Corresponds to variant rs17851169 [ dbSNP | Ensembl ].
VAR_068217
Natural varianti300 – 3001D → Y.
Corresponds to variant rs1044640 [ dbSNP | Ensembl ].
VAR_052691
Natural varianti339 – 3391D → V.
Corresponds to variant rs2074930 [ dbSNP | Ensembl ].
VAR_033813
Natural varianti353 – 3531A → D in COQ10D6. 1 Publication
VAR_068218
Natural varianti395 – 3951T → M.
Corresponds to variant rs34746680 [ dbSNP | Ensembl ].
VAR_033814
Natural varianti406 – 4061V → M.1 Publication
Corresponds to variant rs8500 [ dbSNP | Ensembl ].
VAR_014953

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei2 – 119118AARLV…FRRMQ → IFTFMTRKSCCSKQVQRKYW RNCQKLTATGSAPFPLALQR FSV in isoform 2. 1 PublicationVSP_044060Add
BLAST
Alternative sequencei2 – 5453AARLV…MACAL → RGQGPPLSSFGVWLASRAAS DPSRPRRQ in isoform 3. 1 PublicationVSP_044061Add
BLAST
Alternative sequencei460 – 4612Missing in isoform 2. 1 PublicationVSP_044062

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF132944 mRNA. Translation: AAD27719.1.
AK296040 mRNA. Translation: BAH12244.1.
BX248000 mRNA. Translation: CAD62332.1.
AK222965 mRNA. Translation: BAD96685.1.
AC005480 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81148.1.
BC014181 mRNA. Translation: AAH14181.1.
BC014483 mRNA. Translation: AAH14483.1.
CCDSiCCDS9823.1. [Q9Y2Z9-1]
CCDS9824.2. [Q9Y2Z9-3]
RefSeqiNP_872282.1. NM_182476.2. [Q9Y2Z9-1]
NP_872286.2. NM_182480.2. [Q9Y2Z9-3]
UniGeneiHs.131555.

Genome annotation databases

EnsembliENST00000334571; ENSP00000333946; ENSG00000119723. [Q9Y2Z9-1]
ENST00000394026; ENSP00000377594; ENSG00000119723. [Q9Y2Z9-3]
GeneIDi51004.
KEGGihsa:51004.
UCSCiuc001xpe.3. human. [Q9Y2Z9-2]
uc001xph.3. human. [Q9Y2Z9-1]
uc010tuk.2. human. [Q9Y2Z9-3]

Polymorphism databases

DMDMi26006952.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF132944 mRNA. Translation: AAD27719.1 .
AK296040 mRNA. Translation: BAH12244.1 .
BX248000 mRNA. Translation: CAD62332.1 .
AK222965 mRNA. Translation: BAD96685.1 .
AC005480 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81148.1 .
BC014181 mRNA. Translation: AAH14181.1 .
BC014483 mRNA. Translation: AAH14483.1 .
CCDSi CCDS9823.1. [Q9Y2Z9-1 ]
CCDS9824.2. [Q9Y2Z9-3 ]
RefSeqi NP_872282.1. NM_182476.2. [Q9Y2Z9-1 ]
NP_872286.2. NM_182480.2. [Q9Y2Z9-3 ]
UniGenei Hs.131555.

3D structure databases

ProteinModelPortali Q9Y2Z9.
SMRi Q9Y2Z9. Positions 37-435.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119212. 7 interactions.
IntActi Q9Y2Z9. 2 interactions.
MINTi MINT-1391142.
STRINGi 9606.ENSP00000333946.

PTM databases

PhosphoSitei Q9Y2Z9.

Polymorphism databases

DMDMi 26006952.

Proteomic databases

MaxQBi Q9Y2Z9.
PaxDbi Q9Y2Z9.
PRIDEi Q9Y2Z9.

Protocols and materials databases

DNASUi 51004.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000334571 ; ENSP00000333946 ; ENSG00000119723 . [Q9Y2Z9-1 ]
ENST00000394026 ; ENSP00000377594 ; ENSG00000119723 . [Q9Y2Z9-3 ]
GeneIDi 51004.
KEGGi hsa:51004.
UCSCi uc001xpe.3. human. [Q9Y2Z9-2 ]
uc001xph.3. human. [Q9Y2Z9-1 ]
uc010tuk.2. human. [Q9Y2Z9-3 ]

Organism-specific databases

CTDi 51004.
GeneCardsi GC14P074416.
HGNCi HGNC:20233. COQ6.
HPAi HPA051371.
MIMi 614647. gene.
614650. phenotype.
neXtProti NX_Q9Y2Z9.
Orphaneti 280406. Familial steroid-resistant nephrotic syndrome with sensorineural deafness.
PharmGKBi PA134940980.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0654.
GeneTreei ENSGT00390000015152.
HOGENOMi HOG000255772.
HOVERGENi HBG029533.
InParanoidi Q9Y2Z9.
KOi K06126.
OMAi NSPVRKF.
OrthoDBi EOG7H793X.
PhylomeDBi Q9Y2Z9.
TreeFami TF105772.

Enzyme and pathway databases

UniPathwayi UPA00232 .
Reactomei REACT_160111. Ubiquinol biosynthesis.

Miscellaneous databases

GenomeRNAii 51004.
NextBioi 53468.
PROi Q9Y2Z9.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y2Z9.
CleanExi HS_COQ6.
ExpressionAtlasi Q9Y2Z9. baseline.
Genevestigatori Q9Y2Z9.

Family and domain databases

InterProi IPR002938. mOase_FAD-bd.
IPR003042. Rng_hydrolase-like.
IPR018168. Ubi_Hdrlase_CS.
IPR010971. Ubi_Hdrxlases.
IPR000689. UbQ_biosynth_mOase.
[Graphical view ]
Pfami PF01494. FAD_binding_3. 2 hits.
[Graphical view ]
PRINTSi PR00420. RNGMNOXGNASE.
TIGRFAMsi TIGR01989. COQ6. 1 hit.
TIGR01988. Ubi-OHases. 1 hit.
PROSITEi PS01304. UBIH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  2. "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: Subthalamic nucleus.
  3. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Fetal liver.
  4. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT MET-406.
    Tissue: Heart.
  5. "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.
    , 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].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 LYS-287.
    Tissue: Colon and Lung.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: INTERACTION WITH ADCK4 AND COQ7.
  10. "COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness."
    Heeringa S.F., Chernin G., Chaki M., Zhou W., Sloan A.J., Ji Z., Xie L.X., Salviati L., Hurd T.W., Vega-Warner V., Killen P.D., Raphael Y., Ashraf S., Ovunc B., Schoeb D.S., McLaughlin H.M., Airik R., Vlangos C.N.
    , Gbadegesin R., Hinkes B., Saisawat P., Trevisson E., Doimo M., Casarin A., Pertegato V., Giorgi G., Prokisch H., Rotig A., Nurnberg G., Becker C., Wang S., Ozaltin F., Topaloglu R., Bakkaloglu A., Bakkaloglu S.A., Muller D., Beissert A., Mir S., Berdeli A., Varpizen S., Zenker M., Matejas V., Santos-Ocana C., Navas P., Kusakabe T., Kispert A., Akman S., Soliman N.A., Krick S., Mundel P., Reiser J., Nurnberg P., Clarke C.F., Wiggins R.C., Faul C., Hildebrandt F.
    J. Clin. Invest. 121:2013-2024(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS COQ10D6 ARG-255 AND ASP-353, TISSUE SPECIFICITY, ALTERNATIVE SPLICING.

Entry informationi

Entry nameiCOQ6_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2Z9
Secondary accession number(s): B7Z3K8
, Q53GG6, Q86U30, Q96CA1, Q96CK2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 28, 2002
Last modified: October 29, 2014
This is version 131 of the entry and version 2 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 14
    Human chromosome 14: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3