MGP Database

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MGP001925

Record overview

MGPD IDMGP001925
Gene ID4281
SpeciesHomo sapiens (Human)
Gene Namemidline 1
Gene Symbol MID1
SynonymsOS; FXY; OSX; OGS1; XPRF; BBBG1; GBBB1; MIDIN; RNF59; ZNFXY; TRIM18;
Alternate namesE3 ubiquitin-protein ligase Midline-1; Opitz/BBB syndrome; RING finger protein 59; RING finger protein Midline-1; midline 1 RING finger protein; putative transcription factor XPRF; tripartite motif protein TRIM18; tripartite motif-containing protein 18; zinc finger on X and Y, mouse, homolog of;
ChromosomeX
Map LocationXp22
EC Number6.3.2.-
SummaryThe protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq, Jul 2010]
OrthologsView orthologs and multiple alignments for MID1

Proteins

E3 ubiquitin-protein ligase Midline-1 isoform 1
Refseq ID:NP_001092094
Protein GI:148833499
UniProt ID:O15344
mRNA ID:NM_001098624
Length:667
RefSeq Status:
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSET
RRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKL
VGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIA
NCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTIT
VHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWMIVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVS
HDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDSGRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPH
LRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVCPTFTVWNKCLTIITGLPIPDHLDCTEQLP
 
E3 ubiquitin-protein ligase Midline-1 isoform 1
Refseq ID:NP_150632
Protein GI:15451852
UniProt ID:O15344
mRNA ID:NM_033290
Length:667
RefSeq Status:
Protein sequence is identical to GI:148833499 (mRNA isoform)
 
E3 ubiquitin-protein ligase Midline-1 isoform 1
Refseq ID:NP_000372
Protein GI:4557753
UniProt ID:O15344
mRNA ID:NM_000381
Length:667
RefSeq Status:
Protein sequence is identical to GI:148833499 (mRNA isoform)
 
E3 ubiquitin-protein ligase Midline-1 isoform 1
Refseq ID:NP_001180206
Protein GI:300797132
UniProt ID:O15344
mRNA ID:NM_001193277
Length:667
RefSeq Status:
Protein sequence is identical to GI:148833499 (mRNA isoform)
 
E3 ubiquitin-protein ligase Midline-1 isoform 2
Refseq ID:NP_150631
Protein GI:300797111
UniProt ID:
mRNA ID:NM_033289
Length:629
RefSeq Status:
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSET
RRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKQNLESNLTNLIKRNTELE
TLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITER
VSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSLCNSADSWM
IVPNIKQNHYTVHGLQSGTKYIFMVKAINQAGSRSSEPGKLKTNSQPFKLDPKSAHRKLKVSHDNLTVERDESSSKKSHTPERFTSQGSYGVAGNVFIDS
GRHYWEVVISGSTWYAIGLAYKSAPKHEWIGKNSASWALCRCNNNWVVRHNSKEIPIEPAPHLRRVGILLDYDNGSIAFYDALNSIHLYTFDVAFAQPVC
PTFTVWNKCLTIITGLPIPDHLDCTEQLP
 
E3 ubiquitin-protein ligase Midline-1 isoform 3
Refseq ID:NP_001180207
Protein GI:300797153
UniProt ID:O15344
mRNA ID:NM_001193278
Length:540
RefSeq Status:
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSET
RRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKL
VGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVETVKDQKVIGREKQQYYPRNRRKWVSNSLQARLMGRRCISRRERKLTLD
VEKVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVL
IPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSEYLMAYLFLSLVAFFRLIAF
LNLNFKGRQGRKEHTIFIDLSFLNKKVIALTCTTLVKTAG
 
E3 ubiquitin-protein ligase Midline-1 isoform 4
Refseq ID:NP_001180208
Protein GI:300797175
UniProt ID:O15344
mRNA ID:NM_001193279
Length:489
RefSeq Status:
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSET
RRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKVNMYCVTDDQLICALCKL
VGRHRDHQVAALSERYDKLKQNLESNLTNLIKRNTELETLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIA
NCKQCIERSASLISQAEHSLKENDHARFLQTAKNITERVSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTIT
VHWTSDDEFSVVSYELQYTIFTGQANVVSEYLMAYLFLSLVAFFRLIAFLNLNFKGRQGRKEHTIFIDLSFLNKKVIALTCTTLVKTAG
 
E3 ubiquitin-protein ligase Midline-1 isoform 5
Refseq ID:NP_001180209
Protein GI:300797197
UniProt ID:O15344
mRNA ID:NM_001193280
Length:451
RefSeq Status:
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSET
RRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKQNLESNLTNLIKRNTELE
TLLAKLIQTCQHVEVNASRQEAKLTEECDLLIEIIQQRRQIIGTKIKEGKVMRLRKLAQQIANCKQCIERSASLISQAEHSLKENDHARFLQTAKNITER
VSMATASSQVLIPEINLNDTFDTFALDFSREKKLLECLDYLTAPNPPTIREELCTASYDTITVHWTSDDEFSVVSYELQYTIFTGQANVVSEYLMAYLFL
SLVAFFRLIAFLNLNFKGRQGRKEHTIFIDLSFLNKKVIALTCTTLVKTAG
 
E3 ubiquitin-protein ligase Midline-1 isoform 6
Refseq ID:NP_001180210
Protein GI:300797215
UniProt ID:O15344
mRNA ID:NM_001193281
Length:228
RefSeq Status:
METLESELTCPICLELFEDPLLLPCAHSLCFNCAHRILVSHCATNESVESITAFQCPTCRHVITLSQRGLDGLKRNVTLQNIIDRFQKASVSGPNSPSET
RRERAFDANTMTSAEKVLCQFCDQDPAQDAVKTCVTCEVSYCDECLKATHPNKKPFTGHRLIEPIPDSHIRGLMCLEHEDEKQNLESNLTNLIKRNTELE
TLLAKLIQTCQHVELECSVLFPRVAQWG
 
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