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Q9NTX5

- ECHD1_HUMAN

UniProt

Q9NTX5 - ECHD1_HUMAN

Protein

Ethylmalonyl-CoA decarboxylase

Gene

ECHDC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Decarboxylases ethylmalonyl-CoA decarboxylase, a potentially toxic metabolite, to form butyryl-CoA, suggesting it might be involved in metabolite proofreading. Also has methylmalonyl-CoA decarboxylase activity at lower level.1 Publication

    Catalytic activityi

    (S)-ethylmalonyl-CoA = butanoyl-CoA + CO2.
    (S)-methylmalonyl-CoA = propanoyl-CoA + CO2.

    GO - Molecular functioni

    1. carboxy-lyase activity Source: UniProtKB
    2. methylmalonyl-CoA decarboxylase activity Source: UniProtKB-EC

    Keywords - Molecular functioni

    Lyase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ethylmalonyl-CoA decarboxylase (EC:4.1.1.94)
    Alternative name(s):
    Enoyl-CoA hydratase domain-containing protein 1
    Methylmalonyl-CoA decarboxylase (EC:4.1.1.41)
    Short name:
    MMCD
    Gene namesi
    Name:ECHDC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21489. ECHDC1.

    Subcellular locationi

    Cytoplasmcytosol By similarity

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134871524.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 307307Ethylmalonyl-CoA decarboxylasePRO_0000273246Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei217 – 2171N6-acetyllysine; alternateBy similarity
    Modified residuei217 – 2171N6-succinyllysine; alternateBy similarity
    Modified residuei301 – 3011N6-succinyllysineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9NTX5.
    PaxDbiQ9NTX5.
    PRIDEiQ9NTX5.

    PTM databases

    PhosphoSiteiQ9NTX5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9NTX5.
    BgeeiQ9NTX5.
    CleanExiHS_ECHDC1.
    GenevestigatoriQ9NTX5.

    Organism-specific databases

    HPAiHPA035445.

    Interactioni

    Protein-protein interaction databases

    BioGridi120964. 3 interactions.
    IntActiQ9NTX5. 2 interactions.
    STRINGi9606.ENSP00000357278.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NTX5.
    SMRiQ9NTX5. Positions 57-285.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG1024.
    HOGENOMiHOG000007808.
    HOVERGENiHBG054783.
    OMAiHKHMGLV.
    OrthoDBiEOG79W95T.
    PhylomeDBiQ9NTX5.
    TreeFamiTF315986.

    Family and domain databases

    Gene3Di3.90.226.10. 1 hit.
    InterProiIPR029045. ClpP/crotonase-like_dom.
    IPR001753. Crotonase_core_superfam.
    IPR018376. Enoyl-CoA_hyd/isom_CS.
    [Graphical view]
    PfamiPF00378. ECH. 1 hit.
    [Graphical view]
    SUPFAMiSSF52096. SSF52096. 1 hit.
    PROSITEiPS00166. ENOYL_COA_HYDRATASE. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NTX5-1) [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

    MALKQEMAKS LLKTASLSGR TKLLHQTGLS LYSTSHGFYE EEVKKTLQQF    50
    PGGSIDLQKE DNGIGILTLN NPSRMNAFSG VMMLQLLEKV IELENWTEGK 100
    GLIVRGAKNT FSSGSDLNAV KSLGTPEDGM AVCMFMQNTL TRFMRLPLIS 150
    VALVQGWALG GGAEFTTACD FRLMTPESKI RFVHKEMGII PSWGGTTRLV 200
    EIIGSRQALK VLSGALKLDS KNALNIGMVE EVLQSSDETK SLEEAQEWLK 250
    QFIQGPPEVI RALKKSVCSG RELYLEEALQ NERDLLGTVW GGPANLEAIA 300
    KKGKFNK 307
    Length:307
    Mass (Da):33,698
    Last modified:January 23, 2007 - v2
    Checksum:i77A09FDE065FE0A4
    GO
    Isoform 2 (identifier: Q9NTX5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-6: Missing.

    Show »
    Length:301
    Mass (Da):32,997
    Checksum:iFB931678ECFB2EDA
    GO
    Isoform 3 (identifier: Q9NTX5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-81: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:226
    Mass (Da):24,859
    Checksum:iA2C02B29FEC517AA
    GO
    Isoform 4 (identifier: Q9NTX5-4) [UniParc]FASTAAdd to Basket

    Also known as: HEL-S-76

    The sequence of this isoform differs from the canonical sequence as follows:
         1-81: Missing.
         128-307: DGMAVCMFMQ...AIAKKGKFNK → TSFNKCCAGSRLGIGWRSRIYYSM

    Show »
    Length:70
    Mass (Da):7,745
    Checksum:i97019CB346725D86
    GO
    Isoform 5 (identifier: Q9NTX5-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-6: Missing.
         128-307: DGMAVCMFMQ...AIAKKGKFNK → TSFNKCCAGSRLGIGWRSRIYYSM

    Note: No experimental confirmation available.

    Show »
    Length:145
    Mass (Da):15,883
    Checksum:i25FBCA2D6665D089
    GO
    Isoform 6 (identifier: Q9NTX5-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-6: Missing.
         125-144: TPEDGMAVCMFMQNTLTRFM → LQR

    Note: No experimental confirmation available.

    Show »
    Length:284
    Mass (Da):31,089
    Checksum:i667B60F58667A5C4
    GO

    Sequence cautioni

    The sequence AAF67657.1 differs from that shown. Reason: Frameshift at positions 121, 123 and 125.
    The sequence CAI20295.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20297.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti243 – 2431E → G in BAH14056. (PubMed:14702039)Curated
    Sequence conflicti263 – 2631L → M in BAH14056. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 8181Missing in isoform 3 and isoform 4. 2 PublicationsVSP_042581Add
    BLAST
    Alternative sequencei1 – 66Missing in isoform 2, isoform 5 and isoform 6. 3 PublicationsVSP_022498
    Alternative sequencei125 – 14420TPEDG…LTRFM → LQR in isoform 6. 1 PublicationVSP_042582Add
    BLAST
    Alternative sequencei128 – 307180DGMAV…GKFNK → TSFNKCCAGSRLGIGWRSRI YYSM in isoform 4 and isoform 5. 1 PublicationVSP_042583Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU668355 mRNA. Translation: ACF94508.1.
    AL834469 mRNA. Translation: CAD39128.1.
    AK303812 mRNA. Translation: BAH14056.1.
    AF220192 mRNA. Translation: AAF67657.1. Frameshift.
    AL109939 Genomic DNA. Translation: CAB76256.1.
    AL109939 Genomic DNA. Translation: CAI20295.1. Sequence problems.
    AL109939 Genomic DNA. Translation: CAI20297.1. Sequence problems.
    AL109939 Genomic DNA. Translation: CAI20302.1.
    AL109939 Genomic DNA. Translation: CAI20298.1.
    CH471051 Genomic DNA. Translation: EAW48107.1.
    BC003549 mRNA. Translation: AAH03549.1.
    CCDSiCCDS34530.1. [Q9NTX5-5]
    CCDS43504.1. [Q9NTX5-2]
    CCDS47471.1. [Q9NTX5-1]
    CCDS47472.1. [Q9NTX5-3]
    CCDS55054.1. [Q9NTX5-4]
    RefSeqiNP_001002030.1. NM_001002030.1. [Q9NTX5-2]
    NP_001099014.1. NM_001105544.1. [Q9NTX5-3]
    NP_001099015.1. NM_001105545.1. [Q9NTX5-4]
    NP_001132982.1. NM_001139510.1. [Q9NTX5-1]
    NP_060949.2. NM_018479.3. [Q9NTX5-5]
    XP_005267104.1. XM_005267047.1. [Q9NTX5-2]
    XP_005267105.1. XM_005267048.1. [Q9NTX5-2]
    XP_005267107.1. XM_005267050.1. [Q9NTX5-5]
    UniGeneiHs.486410.

    Genome annotation databases

    EnsembliENST00000368289; ENSP00000357272; ENSG00000093144. [Q9NTX5-5]
    ENST00000368291; ENSP00000357274; ENSG00000093144. [Q9NTX5-5]
    ENST00000430841; ENSP00000402492; ENSG00000093144. [Q9NTX5-2]
    ENST00000454591; ENSP00000404866; ENSG00000093144. [Q9NTX5-3]
    ENST00000454859; ENSP00000401751; ENSG00000093144. [Q9NTX5-2]
    ENST00000474289; ENSP00000434908; ENSG00000093144. [Q9NTX5-2]
    ENST00000528402; ENSP00000436109; ENSG00000093144. [Q9NTX5-4]
    ENST00000531967; ENSP00000436585; ENSG00000093144. [Q9NTX5-1]
    GeneIDi55862.
    KEGGihsa:55862.
    UCSCiuc003qax.3. human. [Q9NTX5-1]
    uc003qay.4. human. [Q9NTX5-5]
    uc010kez.3. human. [Q9NTX5-4]

    Polymorphism databases

    DMDMi124007138.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    EU668355 mRNA. Translation: ACF94508.1 .
    AL834469 mRNA. Translation: CAD39128.1 .
    AK303812 mRNA. Translation: BAH14056.1 .
    AF220192 mRNA. Translation: AAF67657.1 . Frameshift.
    AL109939 Genomic DNA. Translation: CAB76256.1 .
    AL109939 Genomic DNA. Translation: CAI20295.1 . Sequence problems.
    AL109939 Genomic DNA. Translation: CAI20297.1 . Sequence problems.
    AL109939 Genomic DNA. Translation: CAI20302.1 .
    AL109939 Genomic DNA. Translation: CAI20298.1 .
    CH471051 Genomic DNA. Translation: EAW48107.1 .
    BC003549 mRNA. Translation: AAH03549.1 .
    CCDSi CCDS34530.1. [Q9NTX5-5 ]
    CCDS43504.1. [Q9NTX5-2 ]
    CCDS47471.1. [Q9NTX5-1 ]
    CCDS47472.1. [Q9NTX5-3 ]
    CCDS55054.1. [Q9NTX5-4 ]
    RefSeqi NP_001002030.1. NM_001002030.1. [Q9NTX5-2 ]
    NP_001099014.1. NM_001105544.1. [Q9NTX5-3 ]
    NP_001099015.1. NM_001105545.1. [Q9NTX5-4 ]
    NP_001132982.1. NM_001139510.1. [Q9NTX5-1 ]
    NP_060949.2. NM_018479.3. [Q9NTX5-5 ]
    XP_005267104.1. XM_005267047.1. [Q9NTX5-2 ]
    XP_005267105.1. XM_005267048.1. [Q9NTX5-2 ]
    XP_005267107.1. XM_005267050.1. [Q9NTX5-5 ]
    UniGenei Hs.486410.

    3D structure databases

    ProteinModelPortali Q9NTX5.
    SMRi Q9NTX5. Positions 57-285.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120964. 3 interactions.
    IntActi Q9NTX5. 2 interactions.
    STRINGi 9606.ENSP00000357278.

    PTM databases

    PhosphoSitei Q9NTX5.

    Polymorphism databases

    DMDMi 124007138.

    Proteomic databases

    MaxQBi Q9NTX5.
    PaxDbi Q9NTX5.
    PRIDEi Q9NTX5.

    Protocols and materials databases

    DNASUi 55862.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368289 ; ENSP00000357272 ; ENSG00000093144 . [Q9NTX5-5 ]
    ENST00000368291 ; ENSP00000357274 ; ENSG00000093144 . [Q9NTX5-5 ]
    ENST00000430841 ; ENSP00000402492 ; ENSG00000093144 . [Q9NTX5-2 ]
    ENST00000454591 ; ENSP00000404866 ; ENSG00000093144 . [Q9NTX5-3 ]
    ENST00000454859 ; ENSP00000401751 ; ENSG00000093144 . [Q9NTX5-2 ]
    ENST00000474289 ; ENSP00000434908 ; ENSG00000093144 . [Q9NTX5-2 ]
    ENST00000528402 ; ENSP00000436109 ; ENSG00000093144 . [Q9NTX5-4 ]
    ENST00000531967 ; ENSP00000436585 ; ENSG00000093144 . [Q9NTX5-1 ]
    GeneIDi 55862.
    KEGGi hsa:55862.
    UCSCi uc003qax.3. human. [Q9NTX5-1 ]
    uc003qay.4. human. [Q9NTX5-5 ]
    uc010kez.3. human. [Q9NTX5-4 ]

    Organism-specific databases

    CTDi 55862.
    GeneCardsi GC06M127609.
    H-InvDB HIX0006203.
    HGNCi HGNC:21489. ECHDC1.
    HPAi HPA035445.
    MIMi 612136. gene.
    neXtProti NX_Q9NTX5.
    PharmGKBi PA134871524.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1024.
    HOGENOMi HOG000007808.
    HOVERGENi HBG054783.
    OMAi HKHMGLV.
    OrthoDBi EOG79W95T.
    PhylomeDBi Q9NTX5.
    TreeFami TF315986.

    Miscellaneous databases

    ChiTaRSi ECHDC1. human.
    GenomeRNAii 55862.
    NextBioi 61169.
    PROi Q9NTX5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NTX5.
    Bgeei Q9NTX5.
    CleanExi HS_ECHDC1.
    Genevestigatori Q9NTX5.

    Family and domain databases

    Gene3Di 3.90.226.10. 1 hit.
    InterProi IPR029045. ClpP/crotonase-like_dom.
    IPR001753. Crotonase_core_superfam.
    IPR018376. Enoyl-CoA_hyd/isom_CS.
    [Graphical view ]
    Pfami PF00378. ECH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52096. SSF52096. 1 hit.
    PROSITEi PS00166. ENOYL_COA_HYDRATASE. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Li J.Y., Wang H.Y., Liu F.J., Liu J.
      Submitted (APR-2008) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
      Tissue: Epididymis.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Melanoma.
    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.
      , 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: Liver.
    4. "A novel gene expressed in human adrenal gland."
      Xiao H., Song H., Gao G., Ren S., Chen Z., Han Z.
      Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
      Tissue: Hypothalamus.
    5. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(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 2).
      Tissue: Skin.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: FUNCTION.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiECHD1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NTX5
    Secondary accession number(s): A6NFJ5
    , B7Z8S0, E9PEN7, E9PR31, F8W851, Q5TEF6, Q5TEF7, Q5TEG0, Q5TEG4, Q9NZ30, V9HW18
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 23, 2007
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 107 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 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3