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A6NHR9

- SMHD1_HUMAN

UniProt

A6NHR9 - SMHD1_HUMAN

Protein

Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Gene

SMCHD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 69 (01 Oct 2014)
      Sequence version 2 (29 Apr 2008)
      Previous versions | rss
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    Functioni

    Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the de novo methyltransferase DNMT3B By similarity. Required for DUX4 silencing in somatic cells.By similarity1 Publication

    GO - Molecular functioni

    1. ATP binding Source: InterPro

    GO - Biological processi

    1. chromosome organization Source: InterPro
    2. inactivation of X chromosome by DNA methylation Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Structural maintenance of chromosomes flexible hinge domain-containing protein 1
    Alternative name(s):
    SMC hinge domain-containing protein 1
    Gene namesi
    Name:SMCHD1
    Synonyms:KIAA0650
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:29090. SMCHD1.

    Subcellular locationi

    Chromosome By similarity
    Note: Localizes to Barr body.By similarity

    GO - Cellular componenti

    1. Barr body Source: Ensembl

    Keywords - Cellular componenti

    Chromosome

    Pathology & Biotechi

    Involvement in diseasei

    Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti353 – 3531Y → C in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069067
    Natural varianti479 – 4791R → P in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069068
    Natural varianti492 – 4921C → R in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069069
    Natural varianti690 – 6901P → S in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069070
    Natural varianti868 – 8681S → N in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069071
    Natural varianti1554 – 15541F → S in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069072

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi158901. phenotype.
    Orphaneti269. Facioscapulohumeral dystrophy.
    PharmGKBiPA128395776.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 20052004Structural maintenance of chromosomes flexible hinge domain-containing protein 1PRO_0000332144Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications
    Modified residuei1349 – 13491N6-acetyllysine1 Publication
    Modified residuei1802 – 18021N6-succinyllysineBy similarity

    Post-translational modificationi

    Sumoylated with SUMO1.By similarity

    Keywords - PTMi

    Acetylation, Ubl conjugation

    Proteomic databases

    MaxQBiA6NHR9.
    PaxDbiA6NHR9.
    PeptideAtlasiQ6AHX6.
    PRIDEiA6NHR9.

    PTM databases

    PhosphoSiteiA6NHR9.

    Expressioni

    Gene expression databases

    ArrayExpressiA6NHR9.
    BgeeiA6NHR9.
    CleanExiHS_SMCHD1.
    GenevestigatoriA6NHR9.

    Organism-specific databases

    HPAiHPA039441.

    Interactioni

    Protein-protein interaction databases

    BioGridi116929. 13 interactions.
    IntActiA6NHR9. 7 interactions.
    MINTiMINT-5010096.
    STRINGi9606.ENSP00000352119.

    Structurei

    3D structure databases

    ProteinModelPortaliA6NHR9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Phylogenomic databases

    eggNOGiNOG73201.
    HOGENOMiHOG000007754.
    HOVERGENiHBG108493.
    InParanoidiA6NHR9.
    OMAiTQQVPHI.
    OrthoDBiEOG72JWF8.
    PhylomeDBiA6NHR9.
    TreeFamiTF329426.

    Family and domain databases

    Gene3Di3.30.565.10. 2 hits.
    InterProiIPR003594. HATPase_ATP-bd.
    IPR010935. SMC_hinge.
    [Graphical view]
    PfamiPF06470. SMC_hinge. 1 hit.
    [Graphical view]
    SMARTiSM00968. SMC_hinge. 1 hit.
    [Graphical view]
    SUPFAMiSSF55874. SSF55874. 1 hit.
    SSF75553. SSF75553. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A6NHR9-1) [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

    MAAADGGGPG GASVGTEEDG GGVGHRTVYL FDRREKESEL GDRPLQVGER     50
    SDYAGFRACV CQTLGISPEE KFVITTTSRK EITCDNFDET VKDGVTLYLL 100
    QSVNQLLLTA TKERIDFLPH YDTLVKSGMY EYYASEGQNP LPFALAELID 150
    NSLSATSRNI GVRRIQIKLL FDETQGKPAV AVIDNGRGMT SKQLNNWAVY 200
    RLSKFTRQGD FESDHSGYVR PVPVPRSLNS DISYFGVGGK QAVFFVGQSA 250
    RMISKPADSQ DVHELVLSKE DFEKKEKNKE AIYSGYIRNR KPSDSVHITN 300
    DDERFLHHLI IEEKEKDSFT AVVITGVQPE HIQYLKNYFH LWTRQLAHIY 350
    HYYIHGPKGN EIRTSKEVEP FNNIDIEISM FEKGKVPKIV NLREIQDDMQ 400
    TLYVNTAADS FEFKAHVEGD GVVEGIIRYH PFLYDRETYP DDPCFPSKLK 450
    DEDDEDDCFI LEKAARGKRP IFECFWNGRL IPYTSVEDFD WCTPPKKRGL 500
    APIECYNRIS GALFTNDKFQ VSTNKLTFMD LELKLKDKNT LFTRILNGQE 550
    QRMKIDREFA LWLKDCHEKY DKQIKFTLFK GVITRPDLPS KKQGPWATYA 600
    AIEWDGKIYK AGQLVKTIKT LPLFYGSIVR FFLYGDHDGE VYATGGEVQI 650
    AMEPQALYDE VRTVPIAKLD RTVAEKAVKK YVEDEMARLP DRLSVTWPEG 700
    DELLPNEVRP AGTPIGALRI EILNKKGEAM QKLPGTSHGG SKKLLVELKV 750
    ILHSSSGNKE IISHISQHGG KWPYWFKKME NIQKLGNYTL KLQVVLNESN 800
    ADTYAGRPLP SKAIKFSVKE GKPEKFSFGL LDLPFRVGVP FNIPLEFQDE 850
    FGHTSQLVTD IQPVLEASGL SLHYEEITKG PNCVIRGVTA KGPVNSCQGK 900
    NYNLKVTLPG LKEDSQILKI RLLPGHPRRL KVKPDSEILV IENGTAFPFQ 950
    VEVLDESDNI TAQPKLIVHC KFSGAPNLPV YVVDCSSSGT SILTGSAIQV 1000
    QNIKKDQTLK ARIEIPSCKD VAPVEKTIKL LPSSHVARLQ IFSVEGQKAI 1050
    QIKHQDEVNW IAGDIMHNLI FQMYDEGERE INITSALAEK IKVNWTPEIN 1100
    KEHLLQGLLP DVQVPTSVKD MRYCQVSFQD DHVSLESAFT VRPLPDEPKH 1150
    LKCEMKGGKT VQMGQELQGE VVIIITDQYG NQIQAFSPSS LSSLSIAGVG 1200
    LDSSNLKTTF QENTQSISVR GIKFIPGPPG NKDLCFTWRE FSDFIRVQLI 1250
    SGPPAKLLLI DWPELKESIP VINGRDLQNP IIVQLCDQWD NPAPVQHVKI 1300
    SLTKASNLKL MPSNQQHKTD EKGRANLGVF SVFAPRGEHT LQVKAIYNKS 1350
    IIEGPIIKLM ILPDPEKPVR LNVKYDKDAS FLAGGLFTDF MISVISEDDS 1400
    IIKNINPARI SMKMWKLSTS GNRPPANAET FSCNKIKDND KEDGCFYFRD 1450
    KVIPNKVGTY CIQFGFMMDK TNILNSEQVI VEVLPNQPVK LVPKIKPPTP 1500
    AVSNVRSVAS RTLVRDLHLS ITDDYDNHTG IDLVGTIIAT IKGSNEEDTD 1550
    TPLFIGKVRT LEFPFVNGSA EIMSLVLAES SPGRDSTEYF IVFEPRLPLL 1600
    SRTLEPYILP FMFYNDVKKQ QQMAALTKEK DQLSQSIVMY KSLFEASQQL 1650
    LNEMKCQVEE ARLKEAQLRN ELKIHNIDIP TTQQVPHIEA LLKRKLSEQE 1700
    ELKKKPRRSC TLPNYTKGSG DVLGKIAHLA QIEDDRAAMV ISWHLASDMD 1750
    CVVTLTTDAA RRIYDETQGR QQVLPLDSIY KKTLPDWKRS LPHFRNGKLY 1800
    FKPIGDPVFA RDLLTFPDNV EHCETVFGML LGDTIILDNL DAANHYRKEV 1850
    VKITHCPTLL TRDGDRIRSN GKFGGLQNKA PPMDKLRGMV FGAPVPKQCL 1900
    ILGEQIDLLQ QYRSAVCKLD SVNKDLNSQL EYLRTPDMRK KKQELDEHEK 1950
    NLKLIEEKLG MTPIRKCNDS LRHSPKVETT DCPVPPKRMR REATRQNRII 2000
    TKTDV 2005
    Length:2,005
    Mass (Da):226,374
    Last modified:April 29, 2008 - v2
    Checksum:iB662C681424241B7
    GO
    Isoform 2 (identifier: A6NHR9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1907-1917: DLLQQYRSAVC → VHACVPSYSGG
         1918-2005: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,917
    Mass (Da):215,745
    Checksum:i1E16E802BA6F7FD7
    GO
    Isoform 3 (identifier: A6NHR9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-1065: Missing.
         1826-1827: VF → GC
         1828-2005: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:762
    Mass (Da):85,965
    Checksum:i3FD613313D84C89A
    GO

    Sequence cautioni

    The sequence BC035774 differs from that shown. Reason: Frameshift at position 1730.
    The sequence BAB15202.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAH10538.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1278 – 12781Q → E in CAB45732. (PubMed:17974005)Curated
    Sequence conflicti1384 – 13841G → E in CAH10538. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti353 – 3531Y → C in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069067
    Natural varianti479 – 4791R → P in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069068
    Natural varianti492 – 4921C → R in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069069
    Natural varianti690 – 6901P → S in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069070
    Natural varianti708 – 7081V → I.
    Corresponds to variant rs2276092 [ dbSNP | Ensembl ].
    VAR_042959
    Natural varianti868 – 8681S → N in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069071
    Natural varianti879 – 8791K → N.
    Corresponds to variant rs633422 [ dbSNP | Ensembl ].
    VAR_042960
    Natural varianti960 – 9601I → V.
    Corresponds to variant rs9961682 [ dbSNP | Ensembl ].
    VAR_051365
    Natural varianti1554 – 15541F → S in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
    VAR_069072

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 10651065Missing in isoform 3. 1 PublicationVSP_033344Add
    BLAST
    Alternative sequencei1826 – 18272VF → GC in isoform 3. 1 PublicationVSP_033345
    Alternative sequencei1828 – 2005178Missing in isoform 3. 1 PublicationVSP_033346Add
    BLAST
    Alternative sequencei1907 – 191711DLLQQYRSAVC → VHACVPSYSGG in isoform 2. 1 PublicationVSP_033347Add
    BLAST
    Alternative sequencei1918 – 200588Missing in isoform 2. 1 PublicationVSP_033348Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK025646 mRNA. Translation: BAB15202.1. Different initiation.
    AK126324 mRNA. Translation: BAC86525.1.
    AP001011 Genomic DNA. No translation available.
    AP005061 Genomic DNA. No translation available.
    AL080138 mRNA. Translation: CAB45732.1.
    CR627458 mRNA. Translation: CAH10538.1. Different initiation.
    AB014550 mRNA. Translation: BAA31625.1.
    BC035774 mRNA. No translation available.
    CCDSiCCDS45822.1. [A6NHR9-1]
    PIRiT00372.
    RefSeqiNP_056110.2. NM_015295.2. [A6NHR9-1]
    UniGeneiHs.8118.

    Genome annotation databases

    EnsembliENST00000320876; ENSP00000326603; ENSG00000101596. [A6NHR9-1]
    GeneIDi23347.
    KEGGihsa:23347.
    UCSCiuc002klm.4. human. [A6NHR9-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK025646 mRNA. Translation: BAB15202.1 . Different initiation.
    AK126324 mRNA. Translation: BAC86525.1 .
    AP001011 Genomic DNA. No translation available.
    AP005061 Genomic DNA. No translation available.
    AL080138 mRNA. Translation: CAB45732.1 .
    CR627458 mRNA. Translation: CAH10538.1 . Different initiation.
    AB014550 mRNA. Translation: BAA31625.1 .
    BC035774 mRNA. No translation available.
    CCDSi CCDS45822.1. [A6NHR9-1 ]
    PIRi T00372.
    RefSeqi NP_056110.2. NM_015295.2. [A6NHR9-1 ]
    UniGenei Hs.8118.

    3D structure databases

    ProteinModelPortali A6NHR9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116929. 13 interactions.
    IntActi A6NHR9. 7 interactions.
    MINTi MINT-5010096.
    STRINGi 9606.ENSP00000352119.

    PTM databases

    PhosphoSitei A6NHR9.

    Proteomic databases

    MaxQBi A6NHR9.
    PaxDbi A6NHR9.
    PeptideAtlasi Q6AHX6.
    PRIDEi A6NHR9.

    Protocols and materials databases

    DNASUi 23347.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000320876 ; ENSP00000326603 ; ENSG00000101596 . [A6NHR9-1 ]
    GeneIDi 23347.
    KEGGi hsa:23347.
    UCSCi uc002klm.4. human. [A6NHR9-1 ]

    Organism-specific databases

    CTDi 23347.
    GeneCardsi GC18P002649.
    H-InvDB HIX0014298.
    HGNCi HGNC:29090. SMCHD1.
    HPAi HPA039441.
    MIMi 158901. phenotype.
    614982. gene.
    neXtProti NX_A6NHR9.
    Orphaneti 269. Facioscapulohumeral dystrophy.
    PharmGKBi PA128395776.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG73201.
    HOGENOMi HOG000007754.
    HOVERGENi HBG108493.
    InParanoidi A6NHR9.
    OMAi TQQVPHI.
    OrthoDBi EOG72JWF8.
    PhylomeDBi A6NHR9.
    TreeFami TF329426.

    Miscellaneous databases

    ChiTaRSi SMCHD1. human.
    GenomeRNAii 23347.
    NextBioi 45315.
    PROi A6NHR9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A6NHR9.
    Bgeei A6NHR9.
    CleanExi HS_SMCHD1.
    Genevestigatori A6NHR9.

    Family and domain databases

    Gene3Di 3.30.565.10. 2 hits.
    InterProi IPR003594. HATPase_ATP-bd.
    IPR010935. SMC_hinge.
    [Graphical view ]
    Pfami PF06470. SMC_hinge. 1 hit.
    [Graphical view ]
    SMARTi SM00968. SMC_hinge. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55874. SSF55874. 1 hit.
    SSF75553. SSF75553. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1674-2005 (ISOFORM 1).
      Tissue: Trachea.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 530-2005 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1278-2005 (ISOFORM 1).
      Tissue: Testis.
    4. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1158-2005 (ISOFORM 1).
      Tissue: Brain.
    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] OF 1699-2005 (ISOFORM 1).
      Tissue: Eye.
    6. Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W.
      Submitted (DEC-2008) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-26; 280-288; 663-671; 826-836; 1208-1220; 1267-1275 AND 1495-1506, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: Ovarian carcinoma.
    7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-1349, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    10. Cited for: VARIANTS FSHD2 CYS-353; PRO-479; ARG-492; SER-690; ASN-868 AND SER-1554, FUNCTION.

    Entry informationi

    Entry nameiSMHD1_HUMAN
    AccessioniPrimary (citable) accession number: A6NHR9
    Secondary accession number(s): O75141
    , Q6AHX6, Q6ZTQ8, Q9H6Q2, Q9UG39
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 29, 2008
    Last sequence update: April 29, 2008
    Last modified: October 1, 2014
    This is version 69 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: 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

    External Data

    Dasty 3