1. Gene
  2. SHROOM1 - shroom family member 1 Gene

SHROOM1 - shroom family member 1 Gene

Homo sapiens

Also known as APXL2

Gene ID: 134549 | Gene type: protein coding

About SHROOM1

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,822,141-132,830,647 (from NCBI)

This gene has 8 transcripts (splice variants), 195 orthologues and 3 paralogues. Broad expression in prostate (RPKM 16.8), urinary bladder (RPKM 6.1) and 15 other tissues.

Summary

SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]

SHROOM1 Products(3)

mRNA Protein Name
NM_001172700.2 NP_001166171.1 protein Shroom1 isoform 1
NM_001410779.1 NP_001397708.1 protein Shroom1 isoform 3
NM_133456.3 NP_597713.2 protein Shroom1 isoform 2

SHROOM1 Protein Structure

ASD1

ASD1: Apx/Shroom domain ASD1 (138 - 236)

ASD2

ASD2: Apx/Shroom domain ASD2 (543 - 824)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 852 a.a.
Protein Preferred Names Protein Names

protein Shroom1

apical protein 2

Related Diseases

Diseases Alias
Retroperitoneum Carcinoma

Retroperitoneal Cancer

Malignant Neoplasm Of Retroperitoneum And Peritoneum

Retroperitoneal Neoplasms

Carcinoma Of Retroperitoneum

Carcinoma Of The Retroperitoneum

Malignant Neoplasm Of Retroperitoneum

Malignant Retroperitoneal Cancer

Malignant Tumor Of Peritoneum And Retroperitoneum

Neoplasm Of Retroperitoneum

Neoplasm Of The Retroperitoneum

Retroperitoneal Neoplasm

Tumor Of Retroperitoneum

Malignant Retroperitoneal Tumour

Primary Malignant Neoplasm Of Retroperitoneum

Retroperitoneum Cancer

Transient Arthritis
Deafness, Autosomal Recessive 100

DFNB100

Autosomal Recessive Nonsyndromic Deafness 100

Autosomal Recessive Deafness 100

Deafness, Autosomal Recessive, 100

Atrial Septal Defect 2

ASD2

Atrial Heart Septal Defect 2

Atrial Septal Defect-2

Asd Ii

Septal Defect, Atrial, Type 2

Palmoplantar Keratoderma, Punctate Type Ia

Keratosis Palmoplantaris Papulosa

Punctate Palmoplantar Keratoderma Type I

Ppkp1

Keratodermia Palmoplantaris Papulosa, Buschke-Fischer-Brauer Type

PPKP1A

Kppp1

Punctate Palmoplantar Keratoderma Type 1

Palmoplantar Keratoderma, Punctate Type 1a

Palmoplantar Keratoderma, Punctate Type I

Keratoderma, Palmoplantar, Punctate Type Ia

Punctate Palmoplantar Keratoderma Type 1a

Punctate Palmoplantar Keratoderma Type 1b

Brauer-Buschke-Fischer Syndrome

Keratoderma, Palmoplantar Punctate Type 1

Type I Punctate Palmoplantar Keratoderma

Buschke-Fischer-Brauer Syndrome

Keratoderma, Palmoplantar, Punctate 1a

Keratodermia Palmoplantaris Papulosa Buschke-Fischer-Brauer Type

Keratosis Punctate Palmoplantaris Buschke-Fisher-Brauer Type

Punctate Palmoplantar Keratoderma Type Ia

Keratoderma, Palmoplantar, Punctate Type 1

Keratoderma, Palmoplantar, Punctate, Type Ia

Retroperitoneal Sarcoma
Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus SHROOM1 VGNC VGNC:65133
Canis familiaris SHROOM1 VGNC VGNC:46156
Mus musculus SHROOM1 MGD MGI:1919024
Bos taurus SHROOM1 VGNC VGNC:34608
Macaca mulatta SHROOM1 VGNC VGNC:77299
Rattus norvegicus SHROOM1 RGD RGD:1308066