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Q8N139

- ABCA6_HUMAN

UniProt

Q8N139 - ABCA6_HUMAN

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Protein
ATP-binding cassette sub-family A member 6
Gene
ABCA6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Probable transporter which may play a role in macrophage lipid homeostasis.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi514 – 5218ATP 1 Reviewed prediction
Nucleotide bindingi1320 – 13278ATP 2 Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ATPase activity Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_111158. ABCA transporters in lipid homeostasis.

Protein family/group databases

TCDBi3.A.1.211.15. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 6
Gene namesi
Name:ABCA6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:36. ABCA6.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei31 – 5121Helical; Reviewed prediction
Add
BLAST
Transmembranei222 – 24221Helical; Reviewed prediction
Add
BLAST
Transmembranei268 – 28821Helical; Reviewed prediction
Add
BLAST
Transmembranei297 – 31721Helical; Reviewed prediction
Add
BLAST
Transmembranei327 – 34721Helical; Reviewed prediction
Add
BLAST
Transmembranei355 – 37521Helical; Reviewed prediction
Add
BLAST
Transmembranei397 – 41721Helical; Reviewed prediction
Add
BLAST
Transmembranei854 – 87421Helical; Reviewed prediction
Add
BLAST
Transmembranei1007 – 102721Helical; Reviewed prediction
Add
BLAST
Transmembranei1062 – 108221Helical; Reviewed prediction
Add
BLAST
Transmembranei1094 – 111421Helical; Reviewed prediction
Add
BLAST
Transmembranei1127 – 114721Helical; Reviewed prediction
Add
BLAST
Transmembranei1150 – 117021Helical; Reviewed prediction
Add
BLAST
Transmembranei1194 – 121421Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24381.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16171617ATP-binding cassette sub-family A member 6
PRO_0000250672Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi84 – 841N-linked (GlcNAc...) Reviewed prediction
Glycosylationi109 – 1091N-linked (GlcNAc...) Reviewed prediction
Glycosylationi940 – 9401N-linked (GlcNAc...)1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8N139.
PRIDEiQ8N139.

PTM databases

PhosphoSiteiQ8N139.

Expressioni

Tissue specificityi

Widely expressed with higher expression in liver.2 Publications

Developmental stagei

Expressed in fetal kidney, lung and liver.1 Publication

Inductioni

Up-regulated during monocyte differentiation into macrophages. Down-regulated by cholesterol loading of macrophages.1 Publication

Gene expression databases

BgeeiQ8N139.
CleanExiHS_ABCA6.
GenevestigatoriQ8N139.

Interactioni

Protein-protein interaction databases

BioGridi117023. 1 interaction.
IntActiQ8N139. 1 interaction.
STRINGi9606.ENSP00000284425.

Structurei

3D structure databases

ProteinModelPortaliQ8N139.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini478 – 713236ABC transporter 1
Add
BLAST
Domaini1288 – 1513226ABC transporter 2
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
HOGENOMiHOG000231057.
HOVERGENiHBG079884.
InParanoidiQ8N139.
KOiK05649.
OMAiCFQHQRT.
OrthoDBiEOG73Z2SB.
PhylomeDBiQ8N139.
TreeFamiTF105192.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N139-1) [UniParc]FASTAAdd to Basket

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

MNMKQKSVYQ QTKALLCKNF LKKWRMKRES LLEWGLSILL GLCIALFSSS     50
MRNVQFPGMA PQNLGRVDKF NSSSLMVVYT PISNLTQQIM NKTALAPLLK 100
GTSVIGAPNK THMDEILLEN LPYAMGIIFN ETFSYKLIFF QGYNSPLWKE 150
DFSAHCWDGY GEFSCTLTKY WNRGFVALQT AINTAIIEIT TNHPVMEELM 200
SVTAITMKTL PFITKNLLHN EMFILFFLLH FSPLVYFISL NVTKERKKSK 250
NLMKMMGLQD SAFWLSWGLI YAGFIFIISI FVTIIITFTQ IIVMTGFMVI 300
FILFFLYGLS LVALVFLMSV LLKKAVLTNL VVFLLTLFWG CLGFTVFYEQ 350
LPSSLEWILN ICSPFAFTTG MIQIIKLDYN LNGVIFPDPS GDSYTMIATF 400
SMLLLDGLIY LLLALYFDKI LPYGDERHYS PLFFLNSSSC FQHQRTNAKV 450
IEKEIDAEHP SDDYFEPVAP EFQGKEAIRI RNVKKEYKGK SGKVEALKGL 500
LFDIYEGQIT AILGHSGAGK SSLLNILNGL SVPTEGSVTI YNKNLSEMQD 550
LEEIRKITGV CPQFNVQFDI LTVKENLSLF AKIKGIHLKE VEQEVQRILL 600
ELDMQNIQDN LAKHLSEGQK RKLTFGITIL GDPQILLLDE PTTGLDPFSR 650
DQVWSLLRER RADHVILFST QSMDEADILA DRKVIMSNGR LKCAGSSMFL 700
KRRWGLGYHL SLHRNEICNP EQITSFITHH IPDAKLKTEN KEKLVYTLPL 750
ERTNTFPDLF SDLDKCSDQG VTGYDISMST LNEVFMKLEG QSTIEQDFEQ 800
VEMIRDSESL NEMELAHSSF SEMQTAVSDM GLWRMQVFAM ARLRFLKLKR 850
QTKVLLTLLL VFGIAIFPLI VENIMYAMLN EKIDWEFKNE LYFLSPGQLP 900
QEPRTSLLII NNTESNIEDF IKSLKHQNIL LEVDDFENRN GTDGLSYNGA 950
IIVSGKQKDY RFSVVCNTKR LHCFPILMNI ISNGLLQMFN HTQHIRIESS 1000
PFPLSHIGLW TGLPDGSFFL FLVLCSISPY ITMGSISDYK KNAKSQLWIS 1050
GLYTSAYWCG QALVDVSFFI LILLLMYLIF YIENMQYLLI TSQIVFALVI 1100
VTPGYAASLV FFIYMISFIF RKRRKNSGLW SFYFFFASTI MFSITLINHF 1150
DLSILITTMV LVPSYTLLGF KTFLEVRDQE HYREFPEANF ELSATDFLVC 1200
FIPYFQTLLF VFVLRCMELK CGKKRMRKDP VFRISPQSRD AKPNPEEPID 1250
EDEDIQTERI RTATALTTSI LDEKPVIIAS CLHKEYAGQK KSCFSKRKKK 1300
IAARNISFCV QEGEILGLLG PNGAGKSSSI RMISGITKPT AGEVELKGCS 1350
SVLGHLGYCP QENVLWPMLT LREHLEVYAA VKGLRKADAR LAIARLVSAF 1400
KLHEQLNVPV QKLTAGITRK LCFVLSLLGN SPVLLLDEPS TGIDPTGQQQ 1450
MWQAIQAVVK NTERGVLLTT HNLAEAEALC DRVAIMVSGR LRCIGSIQHL 1500
KNKLGKDYIL ELKVKETSQV TLVHTEILKL FPQAAGQERY SSLLTYKLPV 1550
ADVYPLSQTF HKLEAVKHNF NLEEYSLSQC TLEKVFLELS KEQEVGNFDE 1600
EIDTTMRWKL LPHSDEP 1617
Length:1,617
Mass (Da):184,286
Last modified:October 3, 2006 - v2
Checksum:i73940D8050B0A3CA
GO
Isoform 2 (identifier: Q8N139-2) [UniParc]FASTAAdd to Basket

Also known as: ABCA6delta-139

The sequence of this isoform differs from the canonical sequence as follows:
     636-637: LL → EK
     638-1617: Missing.

Show »
Length:637
Mass (Da):72,522
Checksum:i22EAA0CCC530DB75
GO
Isoform 3 (identifier: Q8N139-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     154-185: AHCWDGYGEFSCTLTKYWNRGFVALQTAINTA → GDFPYQISLWNFSCFQHKEQRRLGNRDAFNDT
     186-1617: Missing.

Note: No experimental confirmation available.

Show »
Length:185
Mass (Da):21,356
Checksum:i6B47A3A9A8EAE2A4
GO

Sequence cautioni

The sequence AAM77557.1 differs from that shown. Reason: Frameshift at positions 998 and 1000.
The sequence AAM77558.1 differs from that shown. Reason: Frameshift at positions 998 and 1000.
The sequence BAC04994.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti282 – 2821V → I.1 Publication
Corresponds to variant rs4968839 [ dbSNP | Ensembl ].
VAR_027576
Natural varianti610 – 6101N → Y.
Corresponds to variant rs9282554 [ dbSNP | Ensembl ].
VAR_027577
Natural varianti698 – 6981M → I.
Corresponds to variant rs9282553 [ dbSNP | Ensembl ].
VAR_027578
Natural varianti875 – 8751M → I.1 Publication
Corresponds to variant rs7212506 [ dbSNP | Ensembl ].
VAR_027579
Natural varianti1322 – 13221N → S.2 Publications
Corresponds to variant rs2302134 [ dbSNP | Ensembl ].
VAR_027580

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei154 – 18532AHCWD…AINTA → GDFPYQISLWNFSCFQHKEQ RRLGNRDAFNDT in isoform 3.
VSP_020695Add
BLAST
Alternative sequencei186 – 16171432Missing in isoform 3.
VSP_020696Add
BLAST
Alternative sequencei636 – 6372LL → EK in isoform 2.
VSP_020697
Alternative sequencei638 – 1617980Missing in isoform 2.
VSP_020698Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti51 – 511M → L in AAH70125. 1 Publication
Sequence conflicti147 – 1471L → R in AAH70125. 1 Publication
Sequence conflicti812 – 8121E → G in BAC04994. 1 Publication
Sequence conflicti875 – 8762MY → IH in BAC04994. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF373290 mRNA. Translation: AAM77557.1. Frameshift.
AF373328
, AF373291, AF373292, AF373293, AF373294, AF373295, AF373296, AF373297, AF373298, AF373299, AF373300, AF373301, AF373302, AF373303, AF373304, AF373305, AF373306, AF373307, AF373308, AF373309, AF373310, AF373311, AF373312, AF373313, AF373314, AF373315, AF373316, AF373317, AF373318, AF373319, AF373320, AF373321, AF373322, AF373323, AF373324, AF373325, AF373326, AF373327 Genomic DNA. Translation: AAM77558.1. Frameshift.
AY028898 mRNA. Translation: AAK30023.1.
BC070125 mRNA. Translation: AAH70125.1.
AK097296 mRNA. Translation: BAC04994.1. Different initiation.
CCDSiCCDS11683.1. [Q8N139-1]
RefSeqiNP_525023.2. NM_080284.2. [Q8N139-1]
XP_006721853.1. XM_006721790.1. [Q8N139-1]
UniGeneiHs.709514.

Genome annotation databases

EnsembliENST00000284425; ENSP00000284425; ENSG00000154262. [Q8N139-1]
ENST00000590645; ENSP00000466862; ENSG00000154262. [Q8N139-3]
GeneIDi23460.
KEGGihsa:23460.
UCSCiuc002jhw.1. human. [Q8N139-1]
uc002jhy.3. human. [Q8N139-3]

Polymorphism databases

DMDMi115503764.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF373290 mRNA. Translation: AAM77557.1 . Frameshift.
AF373328
, AF373291 , AF373292 , AF373293 , AF373294 , AF373295 , AF373296 , AF373297 , AF373298 , AF373299 , AF373300 , AF373301 , AF373302 , AF373303 , AF373304 , AF373305 , AF373306 , AF373307 , AF373308 , AF373309 , AF373310 , AF373311 , AF373312 , AF373313 , AF373314 , AF373315 , AF373316 , AF373317 , AF373318 , AF373319 , AF373320 , AF373321 , AF373322 , AF373323 , AF373324 , AF373325 , AF373326 , AF373327 Genomic DNA. Translation: AAM77558.1 . Frameshift.
AY028898 mRNA. Translation: AAK30023.1 .
BC070125 mRNA. Translation: AAH70125.1 .
AK097296 mRNA. Translation: BAC04994.1 . Different initiation.
CCDSi CCDS11683.1. [Q8N139-1 ]
RefSeqi NP_525023.2. NM_080284.2. [Q8N139-1 ]
XP_006721853.1. XM_006721790.1. [Q8N139-1 ]
UniGenei Hs.709514.

3D structure databases

ProteinModelPortali Q8N139.
ModBasei Search...

Protein-protein interaction databases

BioGridi 117023. 1 interaction.
IntActi Q8N139. 1 interaction.
STRINGi 9606.ENSP00000284425.

Protein family/group databases

TCDBi 3.A.1.211.15. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei Q8N139.

Polymorphism databases

DMDMi 115503764.

Proteomic databases

PaxDbi Q8N139.
PRIDEi Q8N139.

Protocols and materials databases

DNASUi 23460.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000284425 ; ENSP00000284425 ; ENSG00000154262 . [Q8N139-1 ]
ENST00000590645 ; ENSP00000466862 ; ENSG00000154262 . [Q8N139-3 ]
GeneIDi 23460.
KEGGi hsa:23460.
UCSCi uc002jhw.1. human. [Q8N139-1 ]
uc002jhy.3. human. [Q8N139-3 ]

Organism-specific databases

CTDi 23460.
GeneCardsi GC17M067074.
H-InvDB HIX0014121.
HGNCi HGNC:36. ABCA6.
MIMi 612504. gene.
neXtProti NX_Q8N139.
PharmGKBi PA24381.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
HOGENOMi HOG000231057.
HOVERGENi HBG079884.
InParanoidi Q8N139.
KOi K05649.
OMAi CFQHQRT.
OrthoDBi EOG73Z2SB.
PhylomeDBi Q8N139.
TreeFami TF105192.

Enzyme and pathway databases

Reactomei REACT_111158. ABCA transporters in lipid homeostasis.

Miscellaneous databases

ChiTaRSi ABCA6. human.
GenomeRNAii 23460.
NextBioi 45761.
PROi Q8N139.
SOURCEi Search...

Gene expression databases

Bgeei Q8N139.
CleanExi HS_ABCA6.
Genevestigatori Q8N139.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR19229. PTHR19229. 1 hit.
Pfami PF00005. ABC_tran. 2 hits.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORM 2), TISSUE SPECIFICITY.
    Tissue: Macrophage.
  2. "Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily."
    Arnould I., Schriml L.M., Prades C., Lachtermacher-Triunfol M., Schneider T., Maintoux C., Lemoine C., Debono D., Devaud C., Naudin L., Bauche S., Annat M., Annilo T., Allikmets R., Gold B., Denefle P., Rosier M., Dean M.
    GeneScreen 1:157-164(2001)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE, TISSUE SPECIFICITY, VARIANTS ILE-282; ILE-875 AND SER-1322.
  3. "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 3).
    Tissue: Lung.
  4. "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] OF 801-1617 (ISOFORM 1), VARIANT SER-1322.
    Tissue: Spleen.
  5. "ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport."
    Klucken J., Buechler C., Orso E., Kaminski W.E., Porsch-Oezcueruemez M., Liebisch G., Kapinsky M., Diederich W., Drobnik W., Dean M., Allikmets R., Schmitz G.
    Proc. Natl. Acad. Sci. U.S.A. 97:817-822(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.
  6. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-940.
    Tissue: Liver.

Entry informationi

Entry nameiABCA6_HUMAN
AccessioniPrimary (citable) accession number: Q8N139
Secondary accession number(s): Q6NSH9, Q8N856, Q8WWZ6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: September 3, 2014
This is version 99 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 17
    Human chromosome 17: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi