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Items: 13

  • The following terms were not found in Protein Family Models: metaplasia, dysgenesis, heteroplasia.
1.

C2H2 type zinc-finger

This is a zinc finger domain C2H2 which can be found in optineurin (optic neuropathy inducing protein) and NF-kappa-B essential modulator (NEMO) furthermore, it can be found in kinase TBK1, a member of the IKK (inhibitor of nuclear factor kappa-B kinase) family. The C-terminal region, which carries the zinc finger domain, constitutes the regulatory domain of NEMO, as it receives the activation signal from upstream molecules, and subsequently transmits this activation to the kinases bound to the N-terminal domain. The isolated NEMO zinc finger is thought to be involved in protein-protein rather than protein-DNA interaction [1]. [1]. 18313693. Solution structure of NEMO zinc finger and impact of an. anhidrotic ectodermal dysplasia with immunodeficiency-related. point mutation.. Cordier F, Vinolo E, Veron M, Delepierre M, Agou F;. J Mol Biol. 2008;377:1419-1432. (from Pfam)

Date:
2024-08-14
Family Accession:
NF037343.5
Method:
HMM
2.

Dyggve-Melchior-Clausen syndrome protein

Dymeclin (Dyggve-Melchior-Clausen syndrome protein) contains a large number of leucine and isoleucine residues and a total of 17 repeated dileucine motifs. It is characteristically about 700 residues long and present in plants and animals. Mutations in the gene coding for this protein in humans give rise to the disorder Dyggve-Melchior-Clausen syndrome (DMC, MIM 223800) which is an autosomal-recessive disorder characterised by the association of a spondylo-epi-metaphyseal dysplasia and mental retardation [1]. DYM transcripts are widely expressed throughout human development and Dymeclin is not an integral membrane protein of the ER, but rather a peripheral membrane protein dynamically associated with the Golgi apparatus [2]. [1]. 12554689. Mutations in a novel gene Dymeclin (FLJ20071) are responsible. for Dyggve-Melchior-Clausen syndrome.. El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C,. Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le. Merrer M, Munnich A, Trembath RC, Cormier-Daire V;. Hum Mol Genet. 2003;12:357-364.. [2]. 18996921. The gene responsible for Dyggve-Melchior-Clausen syndrome. encodes a novel peripheral membrane protein dynamically. associated with the Golgi apparatus.. Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G,. Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire. V, Gressens P, Rustin P, Perez F, El Ghouzzi V;. Hum Mol Genet. 2009;18:1714-1716. (from Pfam)

Date:
2024-08-14
Family Accession:
NF021275.5
Method:
HMM
3.

Meckelin (Transmembrane protein 67)

Members of this family are thought to be related to the ciliary basal body. Defects result in Meckel syndrome type 3, [MIM:607361], an autosomal recessive disorder characterised by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Joubert syndrome type 6 [MIM:610688] is also a manifestation of certain mutations; it is an autosomal recessive congenital malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioural disturbances [1][2]. [1]. 16415887. The transmembrane protein meckelin (MKS3) is mutated in. Meckel-Gruber syndrome and the wpk rat.. Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S,. Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA,. Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA,. Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P,. Algazali L,. Nat Genet. 2006;38:191-196.. [2]. 17160906. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert. syndrome.. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S,. Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S,. Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P,. Johnson CA, Vekemans M, Antignac C, Attie-Bitach T;. Am J Hu. TRUNCATED at 1650 bytes (from Pfam)

GO Terms:
Cellular Component:
MKS complex (GO:0036038)
Biological Process:
cilium assembly (GO:0060271)
Date:
2024-08-14
Family Accession:
NF021304.5
Method:
HMM
4.

APC membrane recruitment protein

This entry includes APC membrane recruitment protein 1/2/3 (Amer1/2/3). Amer1, also known as WTX, binds to the tumour suppressor adenomatous polyposis coli and acts as an inhibitor of Wnt signaling by inducing beta-catenin degradation. Amer2 is a negative regulator of Wnt/beta-catenin signaling involved in neuroectodermal patterning. WTX is a novel gene mutated in a proportion of Wilms' tumors and in patients suffering from sclerosing bone dysplasia [1]. [1]. 17204608. An X Chromosome Gene, WTX, Is Commonly Inactivated in Wilms. Tumor.. Rivera MN, Kim WJ, Wells J, Driscoll DR, Brannigan BW, Han M,. Kim JC, Feinberg AP, Gerald WL, Vargas SO, Chin L, Iafrate AJ,. Bell DW, Haber DA;. Science. 2007; [Epub ahead of print] (from Pfam)

Date:
2024-08-14
Family Accession:
NF020975.5
Method:
HMM
5.

Progressive ankylosis protein (ANKH)

This family consists of several progressive ankylosis protein (ANK or ANKH) sequences. The ANK protein spans the outer cell membrane and shuttles inorganic pyrophosphate (PPi), a major inhibitor of physiologic and pathologic calcification, bone mineralisation and bone resorption [1]. Mutations in ANK are thought to give rise to Craniometaphyseal dysplasia (CMD) which is a rare skeletal disorder characterised by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones [2]. This family shows distant homology to the MOP (TCDB) superfamily of transporters. [1]. 11326272. Heterozygous mutations in ANKH, the human ortholog of the mouse. progressive ankylosis gene, result in craniometaphyseal. dysplasia.. Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter. H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J,. Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS,. Laing N, Tinschert S;. Nat Genet 2001;28:37-41.. [2]. 11326338. Autosomal dominant craniometaphyseal dysplasia is caused by. mutations in the transmembrane protein ANK.. Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna. C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma. H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral. CM, Gorlin RJ, Mulliken JB, Olsen BR;. Am J Hum Genet 2001;68:1321-1326. (from Pfam)

GO Terms:
Cellular Component:
membrane (GO:0016020)
Biological Process:
phosphate ion transmembrane transport (GO:0035435)
Date:
2024-08-14
Family Accession:
NF018913.5
Method:
HMM
6.

Golgi casein kinase, C-terminal, Fam20

Fam20C represents the C-terminus of eukaryotic secreted Golgi casein kinase proteins. Fam20C is the Golgi casein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs. Mutations in Fam20C cause Raine syndrome, an autosomal recessive osteosclerotic bone dysplasia [1]. [1]. 23754375. Crystal structure of the Golgi casein kinase.. Xiao J, Tagliabracci VS, Wen J, Kim SA, Dixon JE;. Proc Natl Acad Sci U S A. 2013;110:10574-10579. (from Pfam)

Date:
2024-08-14
Family Accession:
NF018416.5
Method:
HMM
7.

Sclerostin (SOST)

This family contains several mammalian sclerostin (SOST) proteins. SOST is thought to suppress bone formation. Mutations of the SOST gene lead to sclerosteosis, a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterised by a generalised hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and all long bones also being affected. Due to narrowing of the foramina of the cranial nerves, facial nerve palsy, hearing loss and atrophy of the optic nerves can occur. Sclerosteosis is clinically and radiologically very similar to van Buchem disease, mainly differentiated by hand malformations and a large stature in sclerosteosis patients [1]. [1]. 11181578. Increased bone density in sclerosteosis is due to the deficiency. of a novel secreted protein (SOST).. Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M,. Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill. S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C,. Lindpaintner K, Vickery B, Foernzler D, Van Hul W;. Hum Mol Genet 2001;10:537-543.. [2]. 11179006. Bone dysplasia sclerosteosis results from loss of the SOST gene. product, a novel cystine knot-containing protein.. Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR,. Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett. L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P,. Mulligan J;. Am J Hum Genet 2001;68:577-589. (from Pfam)

GO Terms:
Cellular Component:
extracellular space (GO:0005615)
Date:
2024-08-14
Family Accession:
NF017294.5
Method:
HMM
8.

Sedlin, N-terminal conserved region

Mutations in this protein are associated with the X-linked spondyloepiphyseal dysplasia tarda syndrome (OMIM:313400) [1]. This family represents an N-terminal conserved region. [1]. 11349230. The molecular basis of X-linked spondyloepiphyseal dysplasia. tarda.. Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L,. Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG,. Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J,. Mulley JC;. Am J Hum Genet 2001;68:1386-1397. (from Pfam)

GO Terms:
Biological Process:
endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888)
Date:
2024-08-14
Family Accession:
NF016509.5
Method:
HMM
9.

exostosin family protein

The EXT family is a family of tumour suppressor genes. Mutations of EXT1 Swiss:Q16394 on 8q24.1, EXT2 Swiss:Q93063 on 11p11-13, and EXT3 on 19p have been associated with the autosomal dominant disorder known as hereditary multiple exostoses (HME). This is the most common known skeletal dysplasia. The chromosomal locations of other EXT genes suggest association with other forms of neoplasia. EXT1 and EXT2 have both been shown to encode a heparan sulphate polymerase with both D-glucuronyl (GlcA) and N-acetyl-D-glucosaminoglycan (GlcNAC) transferase activities [1]. The nature of the defect in heparan sulphate biosynthesis in HME is unclear. [1]. 9756849. The putative tumor suppressors EXT1 and EXT2 are. glycosyltransferases required for the biosynthesis of heparan. sulfate.. Lind T, Tufaro F, McCormick C, Lindahl U, Lidholt K;. J Biol Chem 1998;273:26265-26268. (from Pfam)

Date:
2024-08-14
Family Accession:
NF015007.5
Method:
HMM
10.

RING finger and SPRY domain-containing protein 1

RING finger and SPRY domain-containing protein 1 (RSPRY1) may associate with a distinct skeletal dysplasia syndrome

Date:
2022-03-14
Family Accession:
11596343
Method:
Sparcle
11.

RING finger and SPRY domain-containing protein 1

RING finger and SPRY domain-containing protein 1 (RSPRY1) may be associated with a distinct skeletal dysplasia syndrome

Date:
2023-05-22
Family Accession:
11596342
Method:
Sparcle
12.

RING finger and SPRY domain-containing protein 1

RING finger and SPRY domain-containing protein 1 (RSPRY1) may associate with a distinct skeletal dysplasia syndrome

Date:
2022-03-15
Family Accession:
11641425
Method:
Sparcle
13.

RING finger and SPRY domain-containing protein 1

RING finger and SPRY domain-containing protein 1 (RSPRY1) may associate with a distinct skeletal dysplasia syndrome

Date:
2017-03-02
Family Accession:
10191403
Method:
Sparcle
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